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  • Coronaviruses

    Coronaviruses, including types 229E, NL63, OC43, and HKU1, usually cause mild to moderate upper-respiratory tract illnesses, like the common cold. Most people get infected with these viruses at some point in their lives. Coronaviruses can sometimes cause lower-respiratory tract illnesses, such as pneumonia or bronchitis. This is more common in people with cardiopulmonary disease, people with weakened immune systems, infants, and older adults.

  • Human metapneumovirus

    Human metapneumovirus can cause upper and lower respiratory disease in people of all ages, especially among young children, older adults, and people with weakened immune systems. Symptoms commonly associated with HMPV include cough, fever, nasal congestion, and shortness of breath. Clinical symptoms of HMPV infection may progress to bronchiolitis or pneumonia and are similar to other viruses that cause upper and lower respiratory infections.

  • Rhinovirus

    Rhinovirus is the most common type of virus that causes colds. More than 200 viruses can cause the common cold, and infections can spread from person to person through the air and close personal contact. Antibiotics do not work against these viruses and do not help you feel better if you have a cold. When germs that cause colds first infect the nose and sinuses (air-filled pockets in the face), the nose makes clear mucus. This helps wash the germs from the nose and sinuses. After two or three days, mucus may change to a white, yellow, or green color.

  • Influenza

    Influenza (also known as “flu”) is a contagious respiratory illness caused by influenza viruses. It can cause mild to severe illness, and at times can lead to death. This page provides resources about flu symptoms, complications, and diagnosis.

  • Parainfluenza 1

    Parainfluenza 1 infections often cause croup in children. There are usually more cases in the fall of odd-numbered years.

  • Parainfluenza 2

    Parainfluenza 2 infections can also cause croup. HPIV-2 infections occur more commonly in the fall each year. It is less frequently detected than HPIV-1 and HPIV-3.

  • Parainfluenza 3

    Parainfluenza 3 infections usually occur in spring and early summer months each year. However, HPIV-3 infections can occur throughout the year, particularly when HPIV-1 and HPIV-2 are not in season.

  • Parainfluanza 4

    Parainfluanza 4 (subtypes 4a and 4b) seasonal patterns are not yet as well characterized.

  • Respiratory syncytial virus

    Respiratory syncytial virus is a common respiratory virus that usually causes mild, cold-like symptoms. Most people recover in a week or two, but RSV can be serious, especially for infants and older adults. In fact, RSV is the most common cause of bronchiolitis (inflammation of the small airways in the lung) and pneumonia (infection of the lungs) in children younger than 1 year of age in the United States. It is also a significant cause of respiratory illness in older adults.

  • Bordetella parapertussis

    Bordetella parapertussis can cause whooping cough, although it is usually of a milder nature than that caused by Bordetella pertussis. Infants as well as adults can be affected.

  • Bordetella pertussis

    Bordetella pertussis causes the condition known as pertussis. Symptoms usually develop within 5 to 10 days after exposure, but sometimes not for as long as 3 weeks. Pertussis has an insidious onset with catarrhal symptoms that are indistinguishable from those of minor respiratory tract infections. The cough, which is initially intermittent, becomes paroxysmal. In typical cases paroxysms terminate with inspiratory whoop and posttussive vomiting can follow.

  • Chlamydia pneumoniae

    Chlamydia pneumoniae is a type of bacteria that can cause lung infections, such as pneumonia. C. pneumoniae is one of the causes of community-acquired pneumonia (lung infections developed outside of a hospital). However, not everyone who is exposed to C. pneumoniae develops pneumonia.

  • Mycoplasma pneumoniae

    Mycoplasma pneumoniae is a type of “atypical” bacteria that commonly causes mild infections of the respiratory system. In fact, pneumonia caused by M. pneumoniae is sometimes referred to as “walking pneumonia” since symptoms tend to be milder than pneumonia caused by other germs. The most common type of illness caused by these bacteria, especially in children, is tracheobronchitis, commonly called a chest cold. Symptoms often include being tired and having a sore throat, fever, and cough. Sometimes M. pneumoniae can cause pneumonia, a more serious lung infection, which may require care in a hospital.

  • APC

    Several mutations in the APC gene have been found in people with a type of aggressive but noncancerous (benign) growth called a desmoid tumor. These rare tumors arise from connective tissue, which provides strength and flexibility to structures such as bones, ligaments, and muscles. More than 700 mutations in the APC gene have been identified in families with the classic and attenuated types of familial adenomatous polyposis (FAP). Mutations in the APC gene are also responsible for a disorder called Turcot syndrome, which is closely related to familial adenomatous polyposis. Mutations in the APC gene are also responsible for a disorder called Turcot syndrome, which is closely related to familial adenomatous polyposis. Somatic mutations in the APC gene may be involved in the development of a small percentage of stomach (gastric) cancers and primary macronodular adrenal hyperplasia.

  • ATM

    Researchers have identified several hundred mutations in the ATM gene that cause ataxia-telangiectasia. Research suggests that people who carry one mutated copy of the ATM gene in each cell may have an increased risk of developing several other types of cancer. In particular, some studies have shown that cancers of the breast, stomach, bladder, pancreas, lung, and ovaries occur more frequently in ATM mutation carriers than in people who do not carry these mutations.

  • BAP1

    Individuals with the BAP1 tumor predisposition syndrome this condition have an increased risk of developing many types of noncancerous (benign) and cancerous (malignant) tumors, particularly certain tumors of the skin (atypical Spitz tumors, cutaneous melanoma, and basal cell carcinoma); eyes (uveal melanoma); kidneys (clear cell renal cell carcinoma); and the mesothelium.

  • BARD1

    Variants in the BARD1 gene may be associated with cancers such as neuroblastoma and ovarian cancer, as well as familial cancer of the breast.

  • BLM

    Variants in the BLM gene have been identified in people with Bloom syndrome, an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

  • BMPR1A

    Variants in the BMPR1A gene have been found to cause juvenile polyposis syndrome.

  • BRCA1

    Variants in the BRCA1 gene are associated with the development of such cancers as breast, ovarian, prostate, pancreatic, and colon.

  • BRCA2

    variants in the BRCA2 gene are associated with the development of cancers within the breast, ovary, prostate, pancreas, and skin; as well as being associated with Fanconi anemia.

  • BRIP1

    Variants in the BRIP1 gene are associated with familial breast and ovarian cancer as well as the development of Fanconi anemia.

  • ACAD8

    At least 19 mutations in the ACAD8 gene have been found to cause isobutyryl-CoA dehydrogenase (IBD) deficiency. The IBD enzyme is involved in breaking down proteins (valine) from food. An inability to process valine may lead to reduced energy production and the features of IBD deficiency.

  • CDH1

    At least five inherited CDH1 gene mutations have been identified in people with blepharocheilodontic (BCD) syndrome. Inherited mutations in the CDH1 gene increase a woman's risk of developing a form of breast cancer that begins in the milk-producing glands (lobular breast cancer). In many cases, this increased risk occurs as part of an inherited cancer disorder called hereditary diffuse gastric cancer (HDGC). CHD1 has also been found to be linked to ovarian cancer, prostate cancer and including cancers of the lining of the uterus (endometrium) or the ovaries in women, and prostate cancer in men. Individuals with inherited CDH1 gene mutations may have cleft lip, cleft palate, or both (orofacial clefting) without the other signs and symptoms of BCD syndrome and with or without a family history of HDGC (both described above).

  • CDK4

    Variants in the CDK4 gene are associated with the development if cancers of the skin and other sites, such as melanoma.

  • CDKN2A

    Variants in the CDKN2A gene are found in up to one-quarter of head and neck squamous cell carcinomas (HNSCC). In addition, variants can be associated with other cancers, including melanoma, breast cancer, lung cancer, and pancreatic cancer.

  • CDKN2A (p16INK4a)

    Variants in the CDKN2A gene are found in up to one-quarter of head and neck squamous cell carcinomas (HNSCC). In addition, variants can be associated with other cancers, including melanoma, breast cancer, lung cancer, and pancreatic cancer.

  • CHEK2

    Although most cases of Li-Fraumeni syndrome are associated with mutations in the TP53 gene, CHEK2 gene mutations have been identified in several families with cancers characteristic of this condition along with breast, ovarian and prostate cancer. Mutations in the CHEK2 gene, including the 1100delC mutation, have also been found in other hereditary and non hereditary (sporadic) cancers affecting many of the body's organs and tissues

  • EPCAM

    Certain mutations in the EPCAM gene are associated with Lynch syndrome, a condition that increases the risk of developing many types of cancer, particularly cancers of the large intestine (colon) and the rectum (collectively called colorectal cancer). Mutations in the EPCAM gene can also cause congenital tufting enteropathy. This condition is characterized by abnormal development of epithelial cells in the intestines.

  • FANCA

    More than 450 mutations in the FANCA gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk (affected individuals can develop leukemia or other cancers )and physical abnormalities. Mutations in the FANCA gene are responsible for 60 to 70 percent of all cases of Fanconi anemia.

  • FANCB

    This gene encodes a member of the Fanconi anemia complementation group B. disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.

  • FANCD2

    Fanconi anemia complementation group D2 (FANCD2): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

  • FANCE

    Fanconi anemia complementation group E (FANCE): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

  • FH

    More than 20 FH gene mutations have been identified in people with fumarase deficiency, a condition that primarily affects the brain and is often fatal in infancy. More than 70 mutations in the FH gene that cause hereditary leiomyomatosis and renal cell cancer (HLRCC) have been reported. Most of these mutations replace one amino acid with another amino acid in the fumarase enzyme.

  • MEN1

    Mutations in the MEN1 gene have been found in some cases of familial isolated hyperparathyroidism, a condition characterized by overactivity of the parathyroid glands (primary hyperparathyroidism). Occasionally, individuals with familial isolated hyperparathyroidism later develop features of multiple endocrine neoplasia type 1, although most never do. Familial isolated hyperparathyroidism caused by MEN1 gene mutations may be an early or mild form of multiple endocrine neoplasia type 1.

  • MET

    A common allele in the promoter region of the MET shows genetic association with susceptibility to autism in some families. Renal cell carcinoma papillary (RCCP): A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Defects in MET may be associated with gastric cancer. Along with hepatocellular carcinoma (HCC): A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. MET activating mutations may be involved in the development of a highly malignant, metastatic syndrome known as cancer of unknown primary origin (CUP) or primary occult malignancy. MET has been associated with deafness, autosomal recessive, 97 (DFNB97): A form of non-syndromic sensorineural hearing loss with prelingual onset. MET is also associated with osteofibrous dysplasia (OSFD): A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum.

  • MLH1

    About 50 percent of all cases of Lynch syndrome with an identified gene mutation are associated with inherited mutations in the MLH1 gene. Inherited changes in the MLH1 gene increase the risk of developing ovarian cancer, as well as other types of cancer, as part of Lynch syndrome. In addition to colorectal cancer, these individuals may develop cancers of the blood (leukemia or lymphoma).

  • MRE11A

    This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

  • MSH2

    About 40 percent of all cases of Lynch syndrome with an identified gene mutation are associated with inherited mutations in the MSH2 gene. Some mutations in the MSH2 gene cause a variant of Lynch syndrome called Muir-Torre syndrome. In addition to colorectal cancer, people with this condition have an increased risk of developing several uncommon skin tumors. Inherited changes in the MSH2 gene increase the risk of developing ovarian cancer, as well as other types of cancer.

  • MSH6

    Mutations in the MSH6 gene have been reported in about 10 percent of families with Lynch syndrome that have an identified gene mutation. MSH6 is also associated with ovarian cancer, colon cancer, leukemia or lymphoma, and neurofibromatosis is sometimes called CoLoN.

  • NBN

    At least 10 mutations in the NBN gene have been found to cause Nijmegen breakage syndrome, a condition characterized by slow growth, recurrent infections, and an increased risk of developing cancer (prostate, ovarian and breast).

  • NF1

    More than 1,000 NF1 mutations that cause neurofibromatosis type 1 and lung cancer have been identified. In rare cases, inactivation of one copy of the NF1 gene in each cell increases the risk of developing juvenile myelomonocytic leukemia (JMML).

  • NTRK1

    Mutations in the NTRK1 gene cause congenital insensitivity to pain with anhidrosis (CIPA), a condition characterized by the inability to feel pain and decreased or absent sweating (anhidrosis). Mutations in the NTRK1 gene are frequently found in people with a common type of thyroid cancer called papillary thyroid carcinoma. . The mutations involved in papillary thyroid carcinoma occur when rearrangements of genetic material combine part of the NTRK1 gene with another gene. At least three other genes are known to be involved in these rearrangements: the TPM3 gene, the TPR gene, and the TFG gene. All of these genetic rearrangements create mutated proteins called TRK oncoproteins. Unlike normal NTRK1 protein, TRK oncoproteins do not have to be activated by binding to the NGFβ protein; they are always turned on. Constant activation of the protein signals for the cells to grow and divide continuously, which can lead to papillary thyroid carcinoma.

  • PALB2

    This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. PALB2 has been found to be associated with Tracheoesophageal fistula, Pancreatic cancer 3, Familial cancer of breast
    Fanconi anemia and complementation group N .

  • PMS2

    Mutations in the PMS2 gene have been reported in about 2 percent of families with Lynch syndrome that have an identified gene mutation. Lynch syndrome increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. PMS2 has also been found to be associated with ovarian cancer as well.

  • PTCH1

    More than 225 mutations in the PTCH1 gene have been found to cause Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome), a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. Somatic mutations in both copies of the PTCH1 gene are associated with a non-hereditary (sporadic) type of skin cancer called basal cell carcinoma. At least seven mutations in the PTCH1 gene have been found to cause nonsyndromic holoprosencephaly. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.

  • PTEN

    More than 30 mutations in the PTEN gene have been found to cause Bannayan-Riley-Ruvalcaba syndrome. Researchers have identified more than 300 mutations in the PTEN gene that can cause Cowden syndrome or a similar disorder called Cowden-like syndrome. Inherited mutations in the PTEN gene increase the risk of developing breast cancer. In many cases, this increased risk occurs as part of Cowden syndrome (described above). Inherited mutations in the PTEN gene are thought to account for only a small fraction of all breast cancer cases. Other disorders and cancers found to be associated with PTEN are autism spectrum disorder, head and neck squamous cell carcinoma, lung and prostate cancers.

  • RAD50

    RAD50 gene is associated with Nijmegen breakage syndrome-like disorder (NBSLD): A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent.

  • RAD51C

    RAD51C has been found to be associated with Tracheoesophageal fistula, Breast-ovarian cancer, familial 3 and Fanconi anemia, complementation group O.

  • RAD51D

    RAD51D is associated with breast-ovarian cancer, familial, 4 (BROVCA4): A condition associated with familial predisposition to cancer of the breast and ovaries.

  • RET

    Mutations in the RET gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. More than 25 mutations in the RET gene are known to cause a form of multiple endocrine neoplasia called type 2. Multiple endocrine neoplasia typically involves the development of tumors in two or more of the body's hormone-producing glands, called endocrine glands. Mutations in the RET gene increase the risk of developing a type of paraganglioma called pheochromocytoma. Paragangliomas are tumors of the nervous system that are usually noncancerous (benign). Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic changes in the RET gene have been identified in several nonhereditary (sporadic) cancers. In addition to the associated with lung cancer.

  • SMAD4

    At least 27 mutations in the SMAD4 gene have been found to cause a form of hereditary hemorrhagic telangiectasia, a disorder characterized by certain blood vessel abnormalities. 78 mutations in the SMAD4 gene have been found to cause juvenile polyposis syndrome, a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. Most SMAD4 gene mutations that cause juvenile polyposis syndrome result in the production of an abnormally short, nonfunctional protein. Five mutations in the SMAD4 gene have been identified in people with Myhre syndrome, a condition characterized by intellectual disability, a buildup of scar tissue (fibrosis) in the skin and internal organs, and other problems affecting multiple body systems and functions. People with mutations in the SMAD4 gene appear to have an increased risk of developing various cancers and cholangiocarcinoma.

  • STK11

    Inherited mutations in the STK11 gene greatly increase the risk of developing breast cancer, lung cancer, ovarian cancer, and cause Peutz-Jeghers syndrome, a condition characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract and a greatly increased risk of developing several types of cancer.

  • TP53

    Inherited changes in the TP53 gene greatly increase the risk of developing breast cancer, as well as several other forms of cancer, as part of a rare cancer syndrome called Li-Fraumeni syndrome. Somatic TP53 gene mutations have been found in some cases of bladder cancer, nearly half of all head and neck squamous cell carcinomas (HNSCC), are common in ovarian cancer, occurring in almost half of ovarian tumors along with lung and ovarian cancers. Somatic mutations in the TP53 gene are the most common genetic changes found in human cancer, occurring in about half of all cancers

  • VHL

    At least 10 inherited mutations in the VHL gene have been found to cause familial erythrocytosis, a condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots. More than 370 inherited mutations in the VHL gene have been identified in people with von Hippel-Lindau syndrome, a disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Mutations in the VHL gene increase the risk of developing tumors of the nervous system called paragangliomas or pheochromocytomas (a type of paraganglioma). Somatic (noninherited) mutations in the VHL gene are associated with a form of kidney cancer called clear cell renal cell carcinoma. This type of cancer is described as sporadic when it develops in people without inherited VHL mutations. Mutations in the VHL gene have been identified in a type of tumor called a hemangioblastoma. Hemangioblastomas are a characteristic feature of von Hippel-Lindau syndrome, but they can also occur sporadically (without the other signs and symptoms of that condition).

  • ANKK1

    This gene contains a single nucleotide polymorphism that causes an amino acid substitution within the 11th of 12 ankyrin repeats of ANKK1. This polymorphism, which is commonly referred to Taq1A, was previously believed to be located in the promoter region of the DRD2 gene, since the polymorphism is proximal to the DRD2 gene and can influence DRD2 receptor expression. It is now known to be located in the coding region of the ANKK1 gene which controls the synthesis of dopamine in the brain.

  • TSHR

    The TSHR (thyroid stimulating hormone receptor) gene provides instructions for making a protein, known as a receptor, that attaches (binds) to a hormone called thyroid stimulating hormone (TSH). Several TSHR gene mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth.

  • TSHB

    The TSHB (thyroid stimulating hormone beta) gene provides instructions for one piece (subunit) of a hormone called thyroid stimulating hormone (TSH). Researchers have identified at least 10 TSHB gene mutations involved in congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. TSHB gene mutations are the primary cause of a form of the condition called central congenital hypothyroidism, which occurs when stimulation of thyroid hormone production by the pituitary gland is impaired.

  • TPO

    The TPO gene provides instructions for making an enzyme called thyroid peroxidase. This enzyme plays a central role in the function of the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroid peroxidase assists the chemical reaction that adds iodine to a protein called thyroglobulin, a critical step in generating thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). TPO gene mutations can cause congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth.

  • THRB

    The protein encoded by the thyroid hormone receptor beta gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH).

  • THRA

    The protein encoded by the thyroid hormone receptor alpha gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. THRA gene mutations are linked to congenital hypothyroidism.

  • TG

    The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. This protein is found only in the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroglobulin combines with iodine and is modified and broken down to release small molecules known as thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. Other health conditions linked to mutations of this gene include Graves disease and Hashimoto Thyroiditis.

  • TCN2

    The transcobalamin 2 gene provides instructions for making a protein called transcobalamin (formerly known as transcobalamin II). This protein transports cobalamin (also known as vitamin B12) from the bloodstream to cells throughout the body. More than 20 mutations in the TCN2 gene have been found to cause transcobalamin deficiency. This condition impairs the transport of cobalamin from the bloodstream to cells throughout the body. Affected individuals have difficulty gaining weight and growing at the expected rate (failure to thrive), vomiting, diarrhea, a shortage of all types of blood cells, and neurological problems. Many TCN2 gene mutations lead to a complete or near-complete lack (deficiency) of transcobalamin.

  • TAZ

    The TAZ gene provides instructions for producing a protein called tafazzin. Several different isoforms of the tafazzin protein are produced from the TAZ gene. Most isoforms are found in all tissues, but some are found only in certain types of cells. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. More than 160 mutations in the TAZ gene have been found to cause Barth syndrome. This rare condition occurs almost exclusively in males and is characterized by an enlarged and weakened heart (dilated cardiomyopathy), muscle weakness, recurrent infections, and short stature. Some mutations in the TAZ gene cause dilated cardiomyopathy without the other features of Barth syndrome. Other conditions related to mutations of this gene include familial dilated cardiomyopathy and left ventricular noncompaction.

  • TAT

    The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. This enzyme is the first in a series of five enzymes that work to break down the amino acid tyrosine, a protein building block found in many foods. At least 22 TAT gene mutations have been found to cause tyrosinemia type II. This condition often affects the eyes, skin, and mental development.

  • SMPD1

    The SMPD1 gene provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are small compartments in the cell that digest and recycle molecules. At least 175 mutations in the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick disease are characterized by a buildup of fat within cells that leads to lung disease and enlargement of the liver and spleen (hepatosplenomegaly). Type A is more severe and is characterized by severe neurological impairment in early childhood.

  • SMN1

    The SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with high levels in the spinal cord. This protein is particularly important for the maintenance of specialized nerve cells called motor neurons, which are located in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Motor neurons control muscle movement. About 95 percent of individuals with spinal muscular atrophy have mutations that delete a section called exon 7 in both copies of the SMN1 gene in each cell. As a result, little or no SMN protein is made. In about 5 percent of people with this disorder, one copy of the SMN1 gene has a deletion of exon 7, and the other copy has a different mutation that disrupts the production or function of the SMN protein. Researchers have identified at least 65 mutations in the SMN1 gene that cause spinal muscular atrophy.

  • SLC26A4

    The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, across cell membranes. Pendrin is produced in several organs and tissues, particularly the inner ear and thyroid gland. Health conditions that can be caused by mutations of this gene include congenital hypothyroidism, which is a partial or complete loss of function of the thyroid gland that affects infants from birth.

  • SLC5A5

    The SLC5A5 gene provides instructions for making a protein called sodium (Na)-iodide symporter or NIS. This protein transports iodide, a negatively charged version of iodine, into cells of certain tissues. The NIS protein is found primarily in the thyroid gland. In addition to the thyroid gland, the NIS protein is found in breast tissue during milk production (lactation), ovaries, salivary glands, certain stomach cells (parietal cells), tear glands (lacrimal glands), and a part of the brain called the choroid plexus. Several SLC5A5 gene mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth.

  • SLC25A20

    The SLC25A20 gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. At least 27 mutations in the SLC25A20 gene have been found to cause carnitine-acylcarnitine translocase (CACT) deficiency. Although these mutations change the structure of the CACT protein in different ways, they all lead to a shortage (deficiency) of the protein.

  • SLC25A13

    The SLC25A13 gene provides instructions for making a protein called citrin. This protein is active chiefly in the liver, kidneys, and heart. Within the cells of these organs, citrin is involved in transporting molecules into and out of energy-producing structures called mitochondria. More than 20 mutations in the SLC25A13 gene have been identified in people with adult-onset type II citrullinemia. This condition causes neurological problems, such as confusion, restlessness, irritability, and seizures, usually beginning in adulthood. Almost all of the identified mutations lead to the production of an unstable citrin protein that is quickly broken down or an abnormally short, nonfunctional version of the protein.

  • SLC22A5

    The SLC22A5 gene provides instructions for making a protein called OCTN2 that is found in the heart, liver, muscles, kidneys, and other tissues. This protein is positioned within the cell membrane, where it transports a substance known as carnitine into the cell. More than 60 mutations in the SLC22A5 gene have been found to cause primary carnitine deficiency. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the heart, liver, and muscles. Mutations of this gene are also associated with causing Crohn disease, a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation.

  • QDPR

    The QDPR gene provides instructions for making an enzyme called quinoid dihydropteridine reductase. This enzyme helps carry out one step in the chemical pathway that recycles a molecule called tetrahydrobiopterin (BH4), which plays a critical role in processing several amino acids in the body. More than 30 mutations in the QDPR gene have been found to cause tetrahydrobiopterin deficiency. When this condition results from QDPR gene mutations, it is known as dihydropteridine reductase (DHPR) deficiency. DHPR deficiency accounts for about one-third of all cases of tetrahydrobiopterin deficiency.

  • PTS

    The PTS gene provides instructions for making an enzyme called 6-pyruvoyltetrahydropterin synthase. This enzyme is involved in the second of three steps in the production of a molecule called tetrahydrobiopterin (BH4). Other enzymes help carry out the first and third steps in this process.

    Tetrahydrobiopterin plays a critical role in processing several protein building blocks (amino acids) in the body. More than 45 mutations in the PTS gene have been found to cause tetrahydrobiopterin deficiency. When this condition is caused by PTS gene mutations, it is known as 6-pyruvoyltetrahydropterin synthase (PTS) deficiency.

  • PCCB

    The PCCB gene provides instructions for making part of an enzyme called propionyl-CoA carboxylase, specifically, the beta subunit of this enzyme. Six beta subunits come together with six alpha subunits (produced from the PCCA gene) to form a functioning enzyme. Propionyl-CoA carboxylase plays a role in the normal processing of proteins. More than 100 mutations in the PCCB gene have been identified in people with propionic acidemia, a condition that causes severe health problems appearing shortly after birth, causing damage to the brain and nervous system.

  • PCCA

    The PCCA gene provides instructions for making part of an enzyme called propionyl-CoA carboxylase, specifically, the alpha subunit of this enzyme. Six alpha subunits come together with six beta subunits (produced from the PCCB gene) to form a functioning enzyme. The alpha subunit also includes a region for binding to the B vitamin biotin. Propionyl-CoA carboxylase plays a role in the normal processing of proteins. More than 120 mutations in the PCCA gene have been identified in people with propionic acidemia, a condition that causes severe health problems appearing shortly after birth, causing damage to the brain and nervous system.

  • PCBD1

    The PCBD1 gene provides instructions for making an enzyme called pterin-4 alpha-carbinolamine dehydratase. This enzyme helps carry out one step in the chemical pathway that recycles a molecule called tetrahydrobiopterin (BH4). Tetrahydrobiopterin plays a critical role in processing several amino acids in the body. At least nine mutations in the PCBD1 gene have been found to cause tetrahydrobiopterin deficiency. When this condition results from PCBD1 gene mutations, it is known as pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency. PCD deficiency accounts for about 5 percent of all cases of tetrahydrobiopterin deficiency.

  • PAX8

    The PAX8 (paired box 8) gene belongs to a family of genes that play critical roles in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. At least 15 mutations in this gene cause congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. Other PAX8 gene mutations only mildly reduce thyroid hormone levels or have no detectable effect. Sometimes, identical mutations in members of the same family have different effects. The PAX8 gene is sometimes involved in the formation of thyroid tumors (neoplasms). In these cases, abnormal growth affects particular cells called follicular thyroid cells. Some of these growths, called follicular adenomas, are noncancerous (benign). Other tumors, known as follicular carcinomas, are cancerous (malignant).

  • PAH

    The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme is responsible for the first step in processing phenylalanine, which is a building block of proteins (an amino acid) obtained through the diet. More than 500 mutations in the PAH gene have been identified in people with phenylketonuria (PKU). Most of these mutations change single amino acids in phenylalanine hydroxylase.

  • OTC

    The OTC gene provides instructions for making the enzyme ornithine transcarbamylase. This enzyme participates in the urea cycle, a series of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, generated when protein is used by the body, into a compound called urea that is excreted by the kidneys. Excreting the excess nitrogen prevents it from accumulating in the form of ammonia, which is toxic, especially to the nervous system. More than 500 OTC gene mutations have been identified in people with ornithine transcarbamylase deficiency, an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

  • OPA3

    The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating the shape of mitochondria. At least three mutations in the OPA3 gene have been found to cause Costeff syndrome. This condition is characterized by vision loss, movement problems, and intellectual disability. OPA3 gene mutations can also cause autosomal dominant optic atrophy and cataract (ADOAC). People with this condition have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain, and clouding of the lens of the eye (cataract).

  • GJB2

    The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is found in cells throughout the body, including the inner ear. Connexin 26 is also found in the skin. It is thought to play a role in the growth, maturation, and stability of the skin's outermost layer, the epidermis. At least two GJB2 gene mutations have been identified in people with Bart-Pumphrey syndrome. This condition is characterized by a white discoloration of the nails (leukonychia), thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), wart-like growths (knuckle pads) on the knuckles of the fingers and toes, and hearing loss. At least one GJB2 gene mutation has been identified in people with hystrix-like ichthyosis with deafness (HID), a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. At least nine GJB2 gene mutations have been identified in people with keratitis-ichthyosis-deafness (KID) syndrome, with the most common being the D50N mutation that also occurs in hystrix-like ichthyosis with deafness (described above). KID syndrome is characterized by keratitis, which is inflammation of the front surface of the eye (the cornea); thick, reddened patches of dry and scaly skin (ichthyosis); and deafness. Researchers have identified more than 100 GJB2 gene mutations that can cause nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene can cause two forms of nonsyndromic hearing loss: DFNB1 and DFNA3. At least nine GJB2 gene mutations have been identified in people with palmoplantar keratoderma with deafness, a condition characterized by hearing loss and unusually thick skin on the palms of the hands and soles of the feet. At least three GJB2 gene mutations have been identified in people with Vohwinkel syndrome, a condition characterized by hearing loss and skin abnormalities. In addition to abnormal patches of skin, affected individuals develop tight bands of abnormal fibrous tissue around their fingers and toes that may cut off the circulation to the digits and result in spontaneous amputation.

  • GJB6

    The GJB6 gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is found in several different tissues throughout the body, including the brain, inner ear, skin (especially the palms of the hands and soles of the feet), hair follicles, and nail beds. At least four GJB6 gene mutations have been identified in people with a skin disorder called Clouston syndrome, which is also known as hidrotic ectodermal dysplasia 2. Characteristics of Clouston syndrome include fingernail abnormalities, hair loss, and thickened skin on the palms of the hands and soles of the feet. Researchers have identified a few GJB6 gene mutations in individuals with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene cause a form of nonsyndromic hearing loss called DFNA3. This form of hearing loss can either be present before a child learns to speak (prelingual) or begin after a child learns to speak (postlingual). The hearing loss ranges from mild to profound, becomes more severe over time, and particularly affects the ability to hear high-frequency sounds.

  • HADHB

    The HADHB gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. Mitochondrial trifunctional protein is required to metabolize a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Researchers have identified at least 26 mutations in the HADHB gene that cause mitochondrial trifunctional protein deficiency. A few mutations in the HADHB gene have been found to decrease only the long-chain 3-keto-acyl-CoA thiolase enzyme activity of mitochondrial trifunctional protein. HADHB mutations appear to increase a woman's risk of developing two serious liver disorders during pregnancy, known as acute fatty liver of pregnancy (AFLP) and HELLP syndrome.

  • HMGCL

    The HMGCL gene provides instructions for making an enzyme called 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase). This enzyme is found in mitochondria, which are the energy-producing centers inside cells. HMG-CoA lyase plays a critical role in breaking down proteins and fats from the diet. More than 25 mutations in the HMGCL gene have been identified in people with 3-hydroxymethyl-3-methylglutaryl-CoA lyase deficiency (also called HMG-CoA lyase deficiency). If a mutation reduces or eliminates the activity of HMG-CoA lyase, the body is unable to process leucine or make ketones properly. When leucine is not processed normally, chemical byproducts called organic acids can build up and make the blood too acidic (metabolic acidosis). A shortage of ketones can cause blood sugar levels to become dangerously low (hypoglycemia). The effects of metabolic acidosis and hypoglycemia can damage cells, particularly in the brain, resulting in serious illness in children with HMG-CoA lyase deficiency.

  • 
MCOLN1

    The MCOLN1 gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes. At least 22 mutations in the MCOLN1 gene have been found to cause mucolipidosis type IV. Most of these mutations result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. It remains unclear how mutations in the MCOLN1 gene lead to delayed development of mental and motor skills (psychomotor delay), progressive vision loss, and impaired secretion of stomach acid (achlorhydia) in people with mucolipidosis type IV.

  • GLA

    The GLA gene provides instructions for making an enzyme called alpha-galactosidase A. More than 370 mutations in the GLA gene have been identified in people with Fabry disease. Most of these genetic changes are unique to single families. The most common type of mutation changes a single protein building block (amino acid) in alpha-galactosidase A. Other mutations delete part of the GLA gene, insert extra genetic material into the gene, or insert a premature stop signal in the gene's instructions for making alpha-galactosidase A. Mutations that eliminate the activity of the alpha-galactosidase A enzyme lead to the severe, classic form of Fabry disease, which typically begins in childhood. Mutations that reduce but do not completely eliminate the enzyme's activity usually cause milder, late-onset forms of the disorder.

  • GBA

    The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. More than 380 mutations in the GBA gene have been identified in people with Gaucher disease, a disorder with varied features that affect many parts of the body. Affected individuals can have enlargement of the liver and spleen (hepatosplenomegaly), blood cell abnormalities, and rarely, severe neurological problems. Changes in the GBA gene are also associated with Parkinson disease and parkinsonism, which are similar disorders that affect movement. Characteristic features include tremors, and impaired balance and coordination (postural instability). GBA gene mutations can increase the risk of developing dementia with Lewy bodies; however, some people with a mutation in the GBA gene may never develop this condition. Dementia with Lewy bodies is characterized by intellectual decline (dementia); visual hallucinations; sudden changes in attention and mood; and movement problems characteristic of Parkinson disease (described above) such as rigidity of limbs, tremors, and impaired balance and coordination.

  • BTD

    BTD has been found to be associated with Leigh syndrome. More than 150 mutations in the BTD gene have been identified in people with biotinidase deficiency. This disorder, if untreated, can affect many parts of the body and cause delayed development. Most BTD gene mutations cause profound biotinidase deficiency. This severe form of the disorder results when the activity of biotinidase is reduced to less than 10 percent of normal. Other mutations cause a milder form of the condition called partial biotinidase deficiency. These mutations reduce biotinidase activity to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. The resulting shortage of free biotin impairs the activity of biotin-dependent carboxylases, leading to a buildup of potentially toxic compounds in the body. If the condition is not treated promptly, this buildup damages various cells and tissues, causing the signs and symptoms associated with biotinidase deficiency.

  • VKORC1

    Multiple variations (polymorphisms) in the VKORC1 gene have been associated with warfarin resistance, a condition in which individuals require higher doses of the drug warfarin than are usually prescribed. This polymorphism leads to the formation of a VKORC1 enzyme with a decreased ability to bind to warfarin. If people with warfarin resistance require treatment with warfarin and take the average dose, they will remain at risk of developing a potentially harmful blood clot. Multiple polymorphisms in the VKORC1 gene have been associated with warfarin sensitivity, a condition in which individuals require lower doses of the drug warfarin than are usually prescribed.The VKORC1A polymorphism is particularly common in individuals of Asian and European descent. The gene change causes less of the enzyme to be produced and reduces the amount of VKORC1 enzyme that is available to convert vitamin K into a form that can help activate clotting proteins. If people with warfarin sensitivity take the average dose (or more) of warfarin, they are at risk of an overdose, which can cause abnormal bleeding in the brain, gastrointestinal tract, or other tissues, and may lead to serious health problems or death.

  • RYR1

    At least 217 mutations in the RYR1 gene are known to increase the risk of malignant hyperthermia. Most of these mutations change single amino acids in important regions of the ryanodine receptor 1 protein. These mutations alter the structure of the RYR1 channel, causing it to open more easily and close more slowly in response to certain drugs (particularly some anesthetic gases and a type of muscle relaxant used during surgery). As a result, large amounts of calcium ions are released from the sarcoplasmic reticulum within muscle cells. An overabundance of available calcium ions causes skeletal muscles to contract abnormally, which leads to muscle rigidity in people with malignant hyperthermia. An increase in calcium ion concentration within muscle cells also activates processes that generate heat (leading to increased body temperature) and produce excess acid (leading to acidosis).

  • CYP2C8

    Many drugs may increase or decrease the activity of various CYP isozymes either by inducing the biosynthesis of an isozyme (enzyme induction) or by directly inhibiting the activity of the CYP (enzyme inhibition). This is a major source of adverse drug interactions, since changes in CYP enzyme activity may affect the metabolism and clearance of various drugs. For example, if one drug inhibits the CYP-mediated metabolism of another drug, the second drug may accumulate within the body to toxic levels. Hence, these drug interactions may necessitate dosage adjustments or choosing drugs that do not interact with the CYP system. Such drug interactions are especially important to take into account when using drugs of vital importance to the patient, drugs with important side-effects and drugs with small therapeutic windows, but any drug may be subject to an altered plasma concentration due to altered drug metabolism.

  • CYP3A4

    Many drugs may increase or decrease the activity of various CYP isozymes either by inducing the biosynthesis of an isozyme (enzyme induction) or by directly inhibiting the activity of the CYP (enzyme inhibition). This is a major source of adverse drug interactions, since changes in CYP enzyme activity may affect the metabolism and clearance of various drugs. For example, if one drug inhibits the CYP-mediated metabolism of another drug, the second drug may accumulate within the body to toxic levels. Hence, these drug interactions may necessitate dosage adjustments or choosing drugs that do not interact with the CYP system. Such drug interactions are especially important to take into account when using drugs of vital importance to the patient, drugs with important side-effects and drugs with small therapeutic windows, but any drug may be subject to an altered plasma concentration due to altered drug metabolism.

  • Apolipoprotein E

    The e4 version of the APOE gene increases an individual's risk for developing late-onset Alzheimer disease. The APOE e4 allele may also be associated with an earlier onset of memory loss and other symptoms.

  • COMT

    The characteristic signs and symptoms of 22q11.2 deletion syndrome result from a deletion of a small piece of chromosome 22. Researchers believe that changes involving this enzyme in the prefrontal cortex may help explain the increased risk of behavioral problems and mental illness associated with 22q11.2 deletion syndrome. Alcohol use disorder, opioid addiction and schizophrenia have all been shown to link to COMT.

  • CYP1A2

    Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation.

  • CYP2B6

    This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase.

  • CYP2C19

    The CYP2C19 enzyme plays a role in the processing or metabolizing of at least 10 percent of commonly prescribed drugs, including a drug called clopidogrel (also known as Plavix). Multiple variations (polymorphisms) in the CYP2C19 gene have been associated with clopidogrel resistance, a condition in which the drug clopidogrel is less effective than normal in people who are treated with it.

  • CYP2C9

    The CYP2C9 enzyme breaks down (metabolizes) compounds including steroid hormones and fatty acids. The CYP2C9 enzyme also plays a major role in breaking down the drug warfarin, which thins the blood and prevents blood clots from forming. This enzyme also assists in metabolizing other drugs such as ibuprofen, which reduces inflammation. Certain common CYP2C9 gene variations (polymorphisms) that decrease the activity of the CYP2C9 enzyme can result in a condition called warfarin sensitivity.

  • CYP2D6

    This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics.

  • CYP3A5

    The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions.

  • DPYD

    The DPYD gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine when they are not needed. Dihydropyrimidine dehydrogenase is involved in the first step of the breakdown of pyrimidines. The molecules created when pyrimidines are broken down are excreted by the body or used in other cellular processes. Mutations in the DPYD gene also interfere with the breakdown of drugs with structures similar to the pyrimidines, such as the cancer drugs 5-fluorouracil and capecitabine. As a result, these drugs accumulate in the body and cause the severe reactions that can occur in people with dihydropyrimidine dehydrogenase deficiency.

  • Factor II

    The F2 gene provides instructions for making a protein called prothrombin (also called coagulation factor II). Prothrombin is made chiefly by cells in the liver to create thrombin which in turn causes blood clots. More than 50 mutations in the F2 gene have been found to cause prothrombin deficiency. The mutation that causes most cases of prothrombin thrombophilia changes one DNA building block (nucleotide) in the F2 gene.

  • Factor V Leiden

    Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis.

  • HLA (Complex PG *HCP5)

    HLA is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. Genes in this complex are categorized into three basic groups: class I, class II, and class III. One variation of HCP5 appears to provide some delay or resistance to the development of AIDS when a person is infected with HIV. This variation of HCP5 frequently occurs in conjunction with a particular version of an immune system gene called HLA-B.

  • MTHFR

    At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. Several variations (polymorphisms) in the MTHFR gene have been associated with an increased risk of neural tube defects, a group of birth defects that occur during the development of the brain and spinal cord. Polymorphisms in the MTHFR gene are also associated with an increased risk of spina bifida, another common type of neural tube defect.

  • OPRM1

    The OPRM1 gene provides instructions for making a protein called the mu (μ) opioid receptor. Opioid receptors are part of the endogenous opioid system, which is the body's internal system for regulating pain, reward, and addictive behaviors. Common variations (polymorphisms) in the OPRM1 gene have been studied as risk factors for opioid addiction.

  • SLCO1B1

    Mutations in the SLCO1B1 gene are involved in Rotor syndrome. For this condition to occur, individuals must have mutations in the SLCO1B1 gene and a related gene called SLCO1B3. This related gene provides instructions for making a protein called OATP1B3, which has a similar transport function to OATP1B1. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and cleared from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.

  • TPMT

    Changes in the TPMT gene (can be classified as either low-activity or high-activity) cause TPMT deficiency, which is a reduction in the activity of the TPMT enzyme. Without enough of this enzyme, the body cannot "turn off" thiopurine drugs by metabolizing them into inactive compounds. The drugs stay in the body longer and continue to destroy cells unchecked, which leads to bone marrow damage (hematopoietic toxicity). This damage causes myelosuppression, which is an inability of the bone marrow to make enough red blood cells, white blood cells, and platelets.

  • UGT2B15

    UGT2B15*2 is highly prevalent in the population and has been associated with reduced clearance of therapeutic medications such as oxazepam and lorazepam. Additionally, since oxazepam is an active metabolite of other benzodiazepines such as chlordiazepoxide, clorazapate, diazepam, and temazepam, reduced metabolism of oxazepam may also affect the metabolism of these medications. Therefore, identifying patients with UGT2B15 polymorphisms may be beneficial to healthcare providers when considering proper dosage and potential adverse effects of drugs that are substrates of UGT2B15. Lower doses of UGT2B15 substrates may be required for patients carrying the UGT2B15*2 variant.

  • CACNAS1

    CACNA1S mutations account for a very small percentage of all cases of malignant hyperthermia. Researchers have identified two mutations in the CACNA1S gene that are associated with an increased risk of this condition. One of these mutations replaces the amino acid arginine with the amino acid cysteine at protein position 1086 (written as Arg1086Cys); the other mutation replaces the amino acid arginine with the amino acid histidine at the same protein position (Arg1086His).

  • ACADM

    More than 80 mutations in the ACADM gene have been found to cause medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. With a shortage (deficiency) of functional MCAD enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to some features of this disorder such as lack of energy (lethargy) and low blood sugar (hypoglycemia). Medium-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.

  • ACADS

    More than 55 mutations in the ACADS gene have been found to cause short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Almost all of these mutations change single protein building blocks (amino acids) in the SCAD enzyme. These mutations prevent the enzyme from properly metabolizing short-chain fatty acids. As a result, these fats are not converted into energy, which can lead to the characteristic signs and symptoms of this disorder, including lack of energy (lethargy), low blood sugar (hypoglycemia), poor muscle tone (hypotonia), and weakness.

  • ACADSB

    Researchers have identified more than 10 ACADSB gene mutations in people with short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency. As a result of these mutations, SBCAD has little or no activity. With a shortage (deficiency) of normal enzyme activity, the body is unable to break down isoleucine properly. Researchers speculate that some features of this disorder, such as lethargy and muscle weakness, occur because isoleucine is not converted to energy. In addition, impairment of SBCAD may allow the buildup of toxic compounds, which can lead to serious health problems.

  • ACADVL

    More than 100 mutations in the ACADVL gene have been found to cause very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.

  • ACAT1

    More than 40 mutations in the ACAT1 gene have been identified in people with beta-ketothiolase deficiency. Some of these genetic changes disrupt the normal function of the enzyme, while other mutations prevent cells from producing any functional enzyme. This damage leads to episodes of vomiting, dehydration, and other health problems associated with beta-ketothiolase deficiency.

  • ACSF3

    About a dozen mutations in the ACSF3 gene have been found in people with combined malonic and methylmalonic aciduria (CMAMMA), a condition characterized by elevated levels of chemicals known as malonic acid and methylmalonic acid in the body. This condition can cause development and growth problems beginning in childhood or neurological problems beginning in adulthood.

  • ADA

    More than 70 mutations in the ADA gene have been identified. These mutations result in the absence or deficiency of the adenosine deaminase enzyme in cells, preventing the normal breakdown of deoxyadenosine. A buildup of this toxic compound interferes with the development and maintenance of lymphocytes, resulting in severe combined immunodeficiency (SCID), which is characteristic of adenosine deaminase deficiency.

  • AHCY

    Three mutations in the AHCY gene have been described in people with hypermethioninemia. These mutations reduce the activity of the S-adenosylhomocysteine hydrolase enzyme, resulting in the signs and symptoms of hypermethioninemia.

  • ARG1

    Approximately 12 mutations have been identified in the ARG1 gene. The shape of an enzyme affects its ability to control a chemical reaction. If the arginase enzyme is misshapen or missing, it cannot fulfill its role in the urea cycle. Excess nitrogen is not converted to urea for excretion, and ammonia and arginine accumulate in the body. Ammonia is toxic, especially to the nervous system, and the accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.

  • ASL

    Mutations in the ASL gene may result in an argininosuccinate lyase enzyme that is unstable or the wrong shape. If the argininosuccinate lyase enzyme is misshapen or missing, it cannot fulfill its role in the urea cycle. Excess nitrogen is not converted to urea for excretion, and ammonia accumulates in the body. Ammonia is toxic, especially to the nervous system, so this accumulation causes neurological problems and other signs and symptoms of argininosuccinic aciduria.

  • ASPA

    More than 80 mutations in the ASPA gene are known to cause Canavan disease, which is a rare inherited disorder that affects brain development. The ASPA gene mutations that cause the neonatal/infantile form severely impair the activity of aspartoacylase, preventing the breakdown of N-acetyl-L-aspartic acid (NAA) and allowing this substance to build up to high levels in the brain. The mutations that cause the mild/juvenile form have milder effects on the enzyme's activity, leading to less accumulation of NAA.

  • ASS1

    At least 118 mutations that cause type I citrullinemia have been identified in the ASS1 gene. Type I citrullinemia is a serious condition that usually appears in the first few days of life. It causes life-threatening health problems, including poor feeding, vomiting, seizures, and loss of consciousness.

  • AUH

    At least 11 mutations in the AUH gene have been found to cause 3-methylglutaconyl-CoA hydratase deficiency. This condition causes neurological problems such as movement disorders and problems with thinking ability (cognition).

  • BCKDHA

    More than 80 mutations in the BCKDHA gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic form of the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor of affected infants' urine. The buildup of amino acids and their byproducts during the breakdown of leucine, isoleucine, and valine can lead to seizures, developmental delay, and the other health problems associated with maple syrup urine disease

  • BCKDHB

    More than 90 mutations in the BCKDHB gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic form of the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development.

  • CBS

    More than 150 mutations that cause homocystinuria have been identified in the CBS gene. These mutations disrupt the normal function of cystathionine beta-synthase. As a result, homocysteine and other potentially toxic compounds build up in the blood, and homocysteine is excreted in urine. Researchers have not determined how excess homocysteine leads to the signs and symptoms of homocystinuria.

  • CD320

    This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. CD320 is found to be associated with Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MMATC): A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin.

  • CFTR

    About 80 CFTR mutations have been identified in males with congenital bilateral absence of the vas deferens. Men with congenital bilateral absence of the vas deferens are unable to father children (infertile) unless they use assisted reproductive technologies. More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. The abnormal mucus obstructs the airways and glands, leading to the characteristic signs and symptoms of cystic fibrosis. A few mutations in the CFTR gene have been identified in people with isolated problems affecting the digestive or respiratory system and hereditary pancreatitis.

  • CPT1A

    ore than 20 mutations in the CPT1A gene have been found to cause carnitine palmitoyltransferase I (CPT I) deficiency. Reduced energy production can lead to some of the features of CPT I deficiency, such as low blood sugar (hypoglycemia) and low levels of the products of fat breakdown (hypoketosis). Fatty acids may also build up in cells and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of the disorder. CPT1A gene mutations appear to increase the risk of a serious liver disorder that can develop in women during pregnancy. This disorder, called acute fatty liver of pregnancy, begins with abdominal pain and can rapidly progress to liver failure.

  • CPT2

    The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. More than 70 mutations in the CPT2 gene have been found to cause carnitine palmitoyltransferase II (CPT II) deficiency. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.

  • CYP21A2

    The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase, which is part of the cytochrome P450 family of enzymes. More than 100 mutations in the CYP21A2 gene have been found to cause 21-hydroxylase deficiency. All types of 21-hydroxylase deficiency interfere with the production of cortisol and aldosterone. The substances that are usually used to form these hormones instead build up in the adrenal glands and are converted to androgens, which are male sex hormones. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency.

  • DBT

    The DBT gene provides instructions for making part of a group of enzymes called the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex. More than 70 mutations in the DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of the disorder. These variant forms become apparent later in infancy or childhood, and they lead to delayed development and other health problems if not treated.

  • DLD

    The DLD gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. This enzyme forms one part (subunit), called the E3 component, of several groups of enzymes that work together (enzyme complexes). These complexes are essential for the breakdown of certain molecules to produce energy in cells. DLD is found to be associated with Leigh syndrome. At least 17 mutations in the DLD gene have been found to cause dihydrolipoamide dehydrogenase deficiency. The signs and symptoms of this severe condition vary widely, but they most commonly include a potentially life-threatening buildup of lactic acid in the tissues (lactic acidosis), neurological problems, and liver disease.

  • DNAJC19

    The DNAJC19 gene provides instructions for producing a protein found in structures called mitochondria, which are the energy-producing centers of cells. At least two mutations in the DNAJC19 gene have been found to cause dilated cardiomyopathy with ataxia (DCMA) syndrome. This condition is characterized by heart problems, movement difficulties, slow growth, genital abnormalities in males, and other features affecting multiple body systems.

  • DUOX2

    The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. Dual oxidase 2 helps generate a chemical called hydrogen peroxide. Researchers have identified several DUOX2 gene mutations that cause congenital hypothyroidism, a condition characterized by a reduction of thyroid hormone levels that is present from birth.

  • ETFA

    The ETFA gene provides instructions for making one part (the alpha subunit) of an enzyme called electron transfer flavoprotein. Some mutations in the ETFA gene prevent the production of the electron transfer flavoprotein enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

  • ETFDH

    Some mutations in the ETFDH gene prevent the production of the electron transfer flavoprotein dehydrogenase enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

  • ETFB

    Some mutations in the ETFB gene prevent the production of the electron transfer flavoprotein enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

  • FAH

    The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. At least 86 FAH mutations have been found that cause tyrosinemia type I. This condition is characterized by severe liver and kidney disease, neurological problems, and other signs and symptoms that begin in infancy. Researchers have found a correlation between the severity of symptoms and the extent of reversion in liver cells. People with severe symptoms of tyrosinemia type I have few reverted cells, while those with milder symptoms have many cells with the reverted FAH gene.

  • FANCC

    The FANCC gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. At least 50 mutations in the FANCC gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities. Mutations in the FANCC gene are responsible for about 15 percent of all cases of Fanconi anemia.

  • FMR1

    Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene. In these cases, CGG is abnormally repeated from 200 to more than 1,000 times, which makes this region of the gene unstable. As a result, the FMR1 gene is turned off (silenced) and makes very little or no protein. A loss or shortage of FMRP disrupts normal functions of nerve cells and, consequently, the nervous system, causing severe learning problems, intellectual disability, and the other features of fragile X syndrome. About one-third of males with an FMR1 gene mutation and the characteristic signs of fragile X syndrome also have features of autism spectrum disorders that affect communication and social interaction.

  • G6PC

    The G6PC gene provides instructions for making an enzyme called glucose 6-phosphatase. This enzyme is found on the membrane of the endoplasmic reticulum, which is a structure inside cells that is involved in protein processing and transport. At least 85 mutations in the G6PC gene have been found to cause glycogen storage disease type Ia (GSDIa). Too much fat and glycogen stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDIa.

  • G6PD

    The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme, which is active in virtually all types of cells, is involved in the normal processing of carbohydrates. It plays a critical role in red blood cells, which carry oxygen from the lungs to tissues throughout the body. This enzyme helps protect red blood cells from damage and premature destruction. More than 200 mutations that cause glucose-6-phosphate dehydrogenase deficiency have been identified in the G6PD gene. Without enough functional glucose-6-phosphate dehydrogenase, red blood cells are unable to protect themselves from the damaging effects of reactive oxygen species. Factors such as infections, certain drugs, and ingesting fava beans can increase the levels of reactive oxygen species, causing red blood cells to undergo hemolysis faster than the body can replace them. This loss of red blood cells causes the signs and symptoms of hemolytic anemia, which is a characteristic feature of glucose-6-phosphate dehydrogenase deficiency.

  • GAA

    The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). More than 200 mutations in the GAA gene have been identified in people with Pompe disease. Mutations in this gene significantly reduce the activity of acid alpha-glucosidase, preventing the enzyme from breaking down glycogen effectively. As a result, this complex sugar can build up to toxic levels in lysosomes. The abnormal buildup of glycogen damages organs and tissues throughout the body, particularly the muscles, leading to progressive muscle weakness, heart problems, and the other features of Pompe disease.

  • GALC

    The GALC gene provides instructions for making an enzyme called galactosylceramidase. Through a process called hydrolysis, this enzyme uses water molecules to break down certain fats called galactolipids, which are found primarily in the nervous system and kidneys. More than 200 GALC gene mutations that cause Krabbe disease have been identified. Krabbe disease is a brain disorder that usually begins in infancy (infantile Krabbe disease) and causes movement and eating problems, impaired development, and seizures.

  • GALE

    The GALE gene provides instructions for making an enzyme called UDP-galactose-4-epimerase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. More than 20 mutations in the GALE gene have been identified in people with a form of galactosemia known as type III or galactose epimerase deficiency. The signs and symptoms of this condition begin shortly after birth and can vary from mild to severe. Some GALE gene mutations severely reduce or eliminate the activity of UDP-galactose-4-epimerase in all of the body's tissues. Other mutations in the GALE gene reduce the activity of UDP-galactose-4-epimerase in red blood cells only. Researchers are unclear why the effects of some GALE mutations are restricted to blood cells, while other mutations affect all of the body's tissues and cause severe health problems.

  • GALK1

    The GALK1 gene provides instructions for making an enzyme called galactokinase 1. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. More than 30 mutations in the GALK1 gene have been identified in people with a form of galactosemia called type II or galactokinase deficiency. Affected infants develop clouding of the lens of the eye (cataracts) but otherwise experience few of the long-term complications associated with classic galactosemia. A shortage of functional galactokinase 1 prevents cells from processing galactose obtained from the diet. As a result, galactose and a related sugar called galactitol can build up, particularly in cells that make up the lens of the eye. An accumulation of these substances damages the lens, causing it to become cloudy and leading to blurred vision.

  • GALT

    The GALT gene provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. More than 300 mutations in the GALT gene have been identified in people with the classic form of galactosemia, a condition that causes life-threatening signs and symptoms beginning shortly after birth. Most of these mutations severely reduce or eliminate the activity of galactose-1-phosphate uridylyltransferase. A shortage of this enzyme prevents cells from processing galactose obtained from the diet. As a result, galactose-1-phosphate and related compounds can build up to toxic levels in the body. The accumulation of these substances damages tissues and organs, leading to the serious medical problems associated with classic galactosemia.

  • GCDH

    The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is found in mitochondria, the energy-producing centers of cells. Mutations in the GCDH gene prevent production of the glutaryl-CoA enzyme, or result in the production of a defective enzyme that cannot fulfill its role in the breakdown of lysine, hydroxylysine, and tryptophan. This enzyme deficiency allows these amino acids and their intermediate breakdown products to build up to abnormal levels, which damages the nervous system, especially when the body is under stress.

  • GCH1

    The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. More than 140 mutations in the GCH1 gene have been found to cause dopa-responsive dystonia. This condition is characterized by a pattern of involuntary muscle contractions (dystonia), tremors, and other uncontrolled movements and usually responds to treatment with a medication called L-Dopa. Dopa-responsive dystonia results when one copy of the GCH1 gene is mutated in each cell. At least seven mutations in the GCH1 gene have been found to cause tetrahydrobiopterin deficiency. Tetrahydrobiopterin deficiency is more severe than dopa-responsive dystonia likely because both copies of the GCH1 gene are mutated, which leads to a more severe enzyme shortage than in dopa-responsive dystonia, in which only one copy of the gene has a mutation.

  • GJB3

    The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. Connexin 31 is found in several different parts of the body, including the outermost layer of the skin (the epidermis) and structures of the inner ear. Connexin 31 plays a role in the growth and maturation of cells in the epidermis. The exact role of this protein in the inner ear is less clear, although it appears to be involved in hearing. At least 10 GJB3 gene mutations have been identified in people with erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by areas of hyperkeratosis, which is abnormally thickened skin, and temporarily reddened patches called erythematous areas. GJB3 is also associated with nonsyndromic hearing loss.

  • GNMT

    The GNMT gene provides instructions for producing the enzyme glycine N-methyltransferase. The glycine N-methyltransferase enzyme is also involved in processing toxic compounds in the liver. Three mutations in the GNMT gene have been described in individuals with hypermethioninemia. Certain inherited variations in the GNMT gene have been associated with an increased risk of liver and prostate cancers. Other GNMT gene mutations that have been found in cancerous tumors are acquired during a person's lifetime and are present only in certain cells. GNMT has also been found to be associated with prostate cancers.

  • HADH

    The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase that is important for converting certain fats to energy. 3-hydroxyacyl-CoA dehydrogenase functions in mitochondria, the energy-producing centers within cells. This enzyme is especially important for the normal functioning of the heart, liver, kidneys, muscles, and pancreas. At least three mutations in the HADH gene have been found to cause 3-hydroxyacyl-CoA dehydrogenase deficiency. Mutations in the HADH gene have been reported in a small number of people with congenital and familial hyperinsulinism. This disorder is characterized by abnormally high levels of insulin (hyperinsulinism) and unusually low blood sugar (hypoglycemia).

  • HADHA

    The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. Researchers have identified several HADHA gene mutations that cause long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, such as lack of energy (lethargy) and low blood sugar (hypoglycemia). Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, muscles, and light-sensitive tissue at the back of the eye (retina). This abnormal buildup causes the other signs and symptoms of LCHAD deficiency.

  • HBA1

    The HBA1 gene provides instructions for making a protein called alpha-globin. Deletions of the HBA1 and/or HBA2 genes are the most common cause of alpha thalassemia. Rarely, mutations in or near these genes can also be responsible for the disease. A condition called alpha thalassemia-retardation 16 (ATR-16) results from a large deletion of genetic material from the short (p) arm of chromosome 16. The signs and symptoms of ATR-16 vary depending on the size of the deletion. A particularly large deletion may include the PKD1 gene, which is responsible for polycystic kidney disease.

  • HBA2

    The HBA2 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA1. Deletions of the HBA1 and/or HBA2 genes are the most common cause of alpha thalassemia. Rarely, mutations in or near these genes can also be responsible for the disease. A condition called alpha thalassemia-retardation 16 (ATR-16) results from a large deletion of genetic material from the short (p) arm of chromosome 16. A particularly large deletion may include the PKD1 gene, which is responsible for polycystic kidney disease.

  • HBB

    The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. Nearly 400 mutations in the HBB gene have been found to cause beta thalassemia. A shortage of mature red blood cells can reduce the amount of oxygen that is delivered to tissues to below what is needed to satisfy the body's energy needs. A lack of oxygen in the body's tissues can lead to poor growth, organ damage, and other health problems associated with beta thalassemia. More than 10 mutations in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. Sickle cell anemia, a common form of sickle cell disease, is caused by a particular mutation in the HBB gene.

  • HCFC1

    The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. HCF-1 interacts with proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes. At least six HCFC1 gene mutations have been identified in individuals with methylmalonic acidemia with homocystinuria, cblX type, one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with this form also have severe abnormalities in the development of the skull and face (craniofacial abnormalities). Mutations in the HCFC1 gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological problems but do not show other features of methylmalonic acidemia with homocystinuria, cblX type.

  • HEXA

    The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Beta-hexosaminidase A plays a critical role in the brain and spinal cord (central nervous system). More than 120 mutations that cause Tay-Sachs disease have been identified in the HEXA gene. These mutations reduce or eliminate the activity of the enzyme beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance builds up to toxic levels, particularly in nerve cells in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these cells, which causes the signs and symptoms of Tay-Sachs disease.

  • HLCS

    The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. About 30 mutations in the HLCS gene have been identified in people with holocarboxylase synthetase deficiency. A lack of holocarboxylase synthetase activity may also alter the regulation of certain genes that are important for normal development. Researchers believe that these defects in enzyme function underlie the breathing problems, skin rashes, and other characteristic signs and symptoms of holocarboxylase synthetase deficiency.

  • HPD

    The HPD gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is second in a series of five enzymes that work to break down the amino acid tyrosine, a protein building block found in many foods. Researchers have identified at least six HPD gene mutations that cause tyrosinemia type III. This condition is characterized by neurological problems such as intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia).

  • HSD17B10

    The HSD17B10 gene provides instructions for making a protein called HSD10. This protein is located within mitochondria, the energy-producing centers inside cells, where it has several different functions. More than 10 HSD17B10 gene mutations have been found to cause HSD10 disease, a disorder characterized by intellectual disability, impaired speech and movement, and a weakened heart muscle (cardiomyopathy). One specific mutation in the HSD17B10 gene causes a form of X-linked intellectual disability called MRXS10. This disorder is characterized by intellectual disability, uncontrollable movements of the limbs (choreoathetosis), and abnormal behavior.

  • IDUA

    The IDUA gene provides instructions for producing an enzyme called alpha-L-iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). More than 100 mutations in the IDUA gene have been found to cause mucopolysaccharidosis type I (MPS I). Mutations that change one DNA building block (nucleotide) are the most common.

  • IKBKAP

    The IKBKAP gene (also known as ELP-1) provides instructions for making a protein called elongator complex protein 1. This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same mutation in each cell. This mutation can disrupt how information in the gene is spliced together during transcription. As a result of this splicing error, a reduced amount of ELP1 protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of ELP1 protein, and other cells—particularly brain cells—have very little of the protein. It is unclear how mutations of this gene lead to the signs and symptoms of familial dysautonomia. Reduced amounts of ELP1 protein may impair the growth and development of nerve cells by disrupting the cytoskeleton and cell motility.

  • IL2RG

    The IL2RG gene provides instructions for making a protein called the common gamma chain. This protein is a component of several different receptors that are involved in immune system function. More than 300 mutations in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). Most of these mutations involve changes in one or a few DNA building blocks (nucleotides) in the gene. These changes lead to the production of a nonfunctional version of the common gamma chain or prevent any protein from being produced. Without the common gamma chain, important chemical signals are not relayed to the nucleus and lymphocytes cannot develop normally. A lack of functional mature lymphocytes prevents the immune system from fighting off infections.

  • IVD

    The IVD gene provides instructions for making an enzyme called isovaleryl-CoA dehydrogenase. This enzyme plays an essential role in processing proteins obtained from the diet. At least 25 mutations in the IVD gene have been identified in people with isovaleric acidemia. Defects in leucine processing allow several potentially harmful substances, including a compound called isovaleric acid, to build up to toxic levels in the body. An accumulation of isovaleric acid causes people with isovaleric acidemia to have a characteristic odor of sweaty feet. The buildup of isovaleric acid and related compounds also damages the brain and nervous system, leading to poor feeding, lack of energy (lethargy), seizures, and the other signs and symptoms of isovaleric acidemia.

  • LMBRD1

    The LMBRD1 gene provides instructions for making a protein, called LMBD1, that is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. At least nine mutations in the LMBRD1 gene have been found to cause methylmalonic acidemia with homocystinuria, cblF type, one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities.

  • MAT1A

    The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. The enzyme is produced from the MAT1A gene in two forms, designated alpha and beta. The alpha form, called a homotetramer, is made up of four identical protein subunits. The beta form, called a homodimer, is made up of two of the same protein subunits. Both forms of the enzyme are found in the liver. Both the alpha and beta forms of methionine adenosyltransferase help break down a protein building block (amino acid) called methionine. Approximately 15 mutations in the MAT1A gene have been found to reduce the activity of the methionine adenosyltransferase enzyme. Most of these mutations substitute one amino acid for another amino acid in the enzyme, causing it to process methionine less efficiently.

  • MCCC1

    The MCCC1 gene provides instructions for making one part (the alpha subunit) of an enzyme called 3-methylcrotonoyl-CoA carboxylase or 3-MCC. Alpha subunits join with smaller beta subunits made from the MCCC2 gene; six of these pairings together form a functioning enzyme. The alpha subunit also includes a region for binding to the B vitamin biotin, which is required for the enzyme's function.

    The 3-MCC enzyme is found in mitochondria, which are the energy-producing centers inside cells. This enzyme plays a critical role in breaking down proteins obtained from the diet. At least 30 mutations in the MCCC1 gene have been identified in people with 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency).

  • MCCC2

    The MCCC2 gene provides instructions for making one part (the beta subunit) of an enzyme called 3-methylcrotonoyl-CoA carboxylase or 3-MCC. Beta subunits join with larger alpha subunits made from the MCCC1 gene; six of these pairings together form a functioning enzyme.

    The 3-MCC enzyme is found in mitochondria, which are the energy-producing centers inside cells. This enzyme plays a critical role in breaking down proteins obtained from the diet. More than 40 mutations in the MCCC2 gene have been identified in people with 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency).

  • MCEE

    The MCEE gene provides instructions for making an enzyme called methylmalonyl CoA epimerase, which converts one form of the molecule methylmalonyl CoA to another. At least three mutations in the MCEE gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems.

  • MLYCD

    The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. This enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including heart (cardiac) muscle, use fatty acids as a major source of energy. The body also uses fatty acids to build cell membranes, produce hormones, and carry out many other important processes. More than 20 mutations in the MLYCD gene have been identified in people with malonyl-CoA decarboxylase deficiency. A lack of malonyl-CoA decarboxylase disrupts the normal balance of fatty acid formation and breakdown in the body. As a result, fatty acids cannot be converted to energy, which leads to characteristic features of this disorder including low blood sugar (hypoglycemia) and a heart condition called cardiomyopathy.

  • MMAA

    The MMAA gene provides instructions for making a protein that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which is derived from vitamin B12 (also called cobalamin), is necessary for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain proteins, fats (lipids), and cholesterol. More than 25 mutations in the MMAA gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long term health problems.

  • MMAB

    The MMAB gene provides instructions for making an enzyme that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which is derived from vitamin B12 (also known as cobalamin), is necessary for the normal function of another enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain proteins, fats (lipids), and cholesterol. At least 25 mutations in the MMAB gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems.

  • MMACHC

    The MMACHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fats (lipids), and cholesterol. Dozens of MMACHC gene mutations have been found to cause methylmalonic acidemia with homocystinuria, cblC type, the most common form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities.

  • MTR

    The MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. More than 20 mutations in the MTR gene have been identified in people with homocystinuria. Many of these mutations lead to the production of an abnormally small, nonfunctional version of methionine synthase. Other mutations change single amino acids in the enzyme. A specific variant of the MTR gene has been associated with various health problems before birth. The variant replaces one building block of DNA (nucleotide) called adenine with the nucleotide guanine at position 2756 in the MTR gene (written as A2756G). This variant has been associated with an increased risk of birth defects that occur during the development of the brain and spinal cord (neural tube defects). Some studies have suggested that the variant also increases the risk of having a child with Down syndrome, which is a condition characterized by intellectual disability and associated health problems, but other studies found no increased risk.

  • MTRR

    The MTRR gene provides instructions for making an enzyme called methionine synthase reductase. This enzyme is required for the proper function of another enzyme called methionine synthase. Methionine synthase helps process amino acids, which are the building blocks of proteins. At least 20 mutations in the MTRR gene have been identified in people with homocystinuria. Some of these mutations change single amino acids in methionine synthase reductase. Other mutations lead to an abnormally small, nonfunctional version of the enzyme. All these mutations prevent the enzyme from functioning normally. A specific variant of the MTRR gene may be associated with an increased risk of various health problems before birth. The variant replaces a building block of DNA (nucleotide) called adenine with the nucleotide guanine at position 66 of the MTRR gene (written as A66G). This variant is associated with birth defects that occur during the development of the brain and spinal cord (neural tube defects). This variant may also increase the risk of having a child with Down syndrome, a condition characterized by intellectual disability and associated health problems.

  • MUT

    The MUT gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers. Methylmalonyl CoA mutase is responsible for a particular step in the breakdown of several protein building blocks (amino acids), specifically isoleucine, methionine, threonine, and valine. The enzyme also helps break down certain types of fats (lipids) and cholesterol. More than 200 mutations in the MUT gene have been identified in people with methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems. These genetic changes prevent the production of functional methylmalonyl CoA mutase or reduce the activity of the enzyme. As a result, certain proteins and lipids are not broken down properly.

  • NPC1

    The NPC1 gene provides instructions for making a protein that is located within the membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle materials. While the exact function of this protein is unclear, it plays a role in the movement of cholesterol and other types of fats (lipids) within cells and across cell membranes. More than 380 mutations in the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within cells that leads to movement problems, neurological impairment, lung and liver disease, and speech and feeding problems.

  • NPC2

    The NPC2 gene provides instructions for making a protein that is located inside lysosomes, which are compartments in the cell that digest and recycle materials. The NPC2 protein binds to cholesterol. More than 20 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized by a buildup of fat within cells that leads to movement problems, neurological impairment, lung and liver disease, and speech and feeding problems.

  • Adenoviruses

    Adenoviruses most commonly cause respiratory illness. The illnesses can range from the common cold to pneumonia, croup, and bronchitis. Depending on the type, adenoviruses can cause other illnesses such as gastroenteritis, conjunctivitis, cystitis, and, less commonly, neurological disease.

  • ABCC9

    The ABCC9 gene provides instructions for making the sulfonylurea receptor 2 (SUR2) protein. Mutations in the ABCC9 gene have been found to cause Cantú syndrome, familial atrial fibrillation, familial dilated cardiomyopathy, and dilated cardiomyopathy.

  • ACTA1

    The ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family. Mutations in the ACTA1 gene have been identified in people with actin-accumulation myopathy, cap myopathy, congenital fiber-type disproportion, intranuclear rod myopathy, and nemaline myopathy.

  • ACTA2

    The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. ACTA2 gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD) and multisystemic smooth muscle dysfunction syndrome.

  • ACTC1

    The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).

  • ACTN2

    This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Mutations in the ACTN2 gene have been found to be associated with familial hypertrophic cardiomyopathy and familial dilated cardiomyopathy.

  • ADAMTS2

    The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.

  • ADAMTSL4

    The ADAMTSL4 gene provides instructions for making a protein that is found throughout the body. Mutations in the ADAMTSL4

    gene have been found to cause isolated ectopia lentis and ectopia lentis et pupillae.

  • AGL

    The AGL gene provides instructions for making the glycogen debranching enzyme. Approximately 100 mutations in the AGL

    gene have been found to cause glycogen storage disease type III (also called GSDIII or Cori disease).

  • AKAP9

    : This gene encodes a member of the AKAP family. Mutations in this gene have been found to be associated with Romano-Ward syndrome and Long-QT syndrome 11.

  • ALDH18A1

    This gene is a member of the aldehyde dehydrogenase family. Mutations in this gene have been found to be associated with cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework.

  • ALMS1

    The ALMS1 gene provides instructions for making a protein whose function is unknown. Researchers believe that the protein may play a role in hearing, vision, regulation of body weight, and functions of the heart, kidney, lungs, and liver. More than 80 mutations in the ALMS1 gene have been identified in people with Alström syndrome.

  • ALPK3

    Mutations in the ALPK3 gene have been known to be associated with congenital cardiomyopathy.

  • ANK2

    The ANK2 gene provides instructions for making a protein called ankyrin-B. Mutations in the ANK2 gene have been found to cause ankyrin-B syndrome, a condition characterized by a variety of heart problems, as well as autism spectrum disorder.

  • ANKRD1

    The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Mutations in this gene have been found to be associated with familial dilated cardiomyopathy.

  • ASPH

    This gene is thought to play an important role in calcium homeostasis. Mutations in this gene have been found to be associated with facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.

  • ATP6V0A2

    The ATP6V0A2 gene provides instructions for making one part, the a2 subunit, of a large protein complex. Mutations in the ATP6V0A2 gene have been identified in people with cutis laxa.

  • ATP7A

    The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Mutations in this gene have been found to be associated with cutis laxa and Menkes syndrome.

  • ATR

    The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. Mutations in this gene have been found to be associated with Seckel syndrome 1 and Cutaneous telangiectasia and cancer syndrome (familial).

  • AXIN2

    The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway. Mutations in this gene have been found to be associated with colorectal cancer and Oligodontia-colorectal cancer syndrome.

  • B3GALT6

    The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus. Mutations in this gene have been found to be associated with Ehlers-Danlos syndrome, progeroid type, 2.

  • B4GALT7

    This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Mutations in this gene have been found to be associated with Ehlers-Danlos syndrome.

  • BAG3

    The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. Mutations in this gene have been found to be associated with familial dilated cardiomyopathy and myofibrillar myopathy.

  • BMPR2

    The BMPR2 gene provides instructions for making a protein called bone morphogenetic protein receptor type 2. Mutations in this gene have been found to be associated with pulmonary arterial hypertension and pulmonary veno-occlusive disease.

  • BRAF

    The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. Mutations in this gene have been found to be associated with cardiofaciocutaneous syndrome, Erdheim-Chester disease, giant congenital melanocytic nevus, Noonan syndrome, cholangiocarcinoma, gastrointestinal stromal tumors, Langerhans cell histiocytosis, lung cancer and multiple myeloma.

  • BUB1B

    The BUB1B gene provides instructions for making a protein called BUBR1, which is important for proper chromosome separation during cell division. More than a dozen mutations in the BUB1B gene have been found to cause mosaic variegated aneuploidy (MVA) syndrome type 1. This condition is characterized by cells with abnormal numbers of chromosomes, a situation known as aneuploidy. Affected individuals grow slowly and have an unusually small head size (microcephaly) and an increased risk of developing cancer in childhood.

  • CACNA1C

    The CACNA1C gene belongs to a family of genes that provide instructions for making calcium channels. Mutations in the CACNA1C

    gene are responsible for all reported cases of Timothy syndrome. They have also been associated with Brugada syndrome.

  • CACNA2D1

    : The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Mutations in this gene have been found to be associated with Brugada syndrome and malignant hyperthermia.

  • CACNB2

    : This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. Mutations in this gene have been found to be associated with Brugada syndrome.

  • CALM1

    This gene encodes a member of the EF-hand calcium-binding protein family. Mutations in this gene have been found to be associated with Romano-Ward syndrome and Long QT syndrome.

  • CALM2

    This gene is a member of the calmodulin gene family. Mutations in this gene have been found to be associated with Romano-Ward syndrome and Long QT syndrome.

  • CALM3

    This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Mutations in this gene have been found to be associated with Long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.

  • CALR3

    The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. Mutations in this gene have been found to be associated with familial hypertrophic cardiomyopathy.

  • CASQ2

    The CASQ2 gene provides instructions for making a protein called calsequestrin 2. Mutations in the CASQ2 gene have been identified in people with catecholaminergic polymorphic ventricular tachycardia (CPVT).

  • CAV1

    The CAV1 gene provides instructions for making a protein called caveolin-1. This protein appears to have diverse functions in cells and tissues throughout the body. Mutations in this gene have been found to be associated with congenital generalized lipodystrophy type 3, pulmonary arterial hypertension, and several forms of forms of lipodystrophy.

  • CAV3

    The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. Mutations in this gene have been found to be associated with isolated hyperCKemia, distal myopathy, limb-girdle muscular dystrophy type 1C, rippling muscle disease, hypertrophic cardiomyopathy and Romano-Ward syndrome.

  • CDC73

    The CDC73 gene (also known as HRPT2) provides instructions for making a protein called parafibromin. This protein is found primarily in the nucleus of cells and is likely involved in regulating gene transcription, which is the first step in protein production. Mutations in the CDC73 gene are found in up to 70 percent of cases of parathyroid cancer. In approximately one-third of affected individuals with changes in this gene, the mutation is inherited from a parent and is present in all of the body's cells (germline mutation). Mutations in this gene are also associated with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome.

  • CDKN1B

    The CDKN1B gene provides instructions for making a protein called p27. This protein is found in cells and tissues throughout the body. Within cells, p27 is located primarily in the nucleus, where it plays a critical role in controlling cell growth and division. At least eight mutations in the CDKN1B

    gene have been found to cause a relatively rare form of multiple endocrine neoplasia called type 4. Multiple endocrine neoplasia typically involves the development of tumors in two or more of the body's hormone-producing glands, called endocrine glands. These tumors can be noncancerous or cancerous. Mutations in the CDKN1B gene have also been found to cause tumors in single endocrine glands, such as the pituitary gland or the parathyroid glands.

  • CEBPA

    The CEBPA gene provides instructions for making a protein called CCAAT enhancer-binding protein alpha. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity (expression) of certain genes. CCAAT enhancer-binding protein alpha is involved in the maturation (differentiation) of certain blood cells. It is also believed to act as a tumor suppressor. At least six mutations in the CEBPA gene have been identified in families with familial acute myeloid leukemia with mutated CEBPA, which is a form of a blood cancer known as acute myeloid leukemia. Mutations in the CEBPA gene have been identified in some people with a form of acute myeloid leukemia known as cytogenetically normal acute myeloid leukemia (CN-AML).

  • CHEK1

    Checkpoint kinase 1, is a serine/threonine-specific protein kinase that in humans, is encoded by the CHEK1 gene (also known as Chk1) . CHEK1 coordinates the DNA damage response and cell cycle checkpoint response. This gene is involved in the initiation of cell cycle checkpoints, cell cycle arrest, DNA repair and cell death to prevent damaged cells from progressing through the cell cycle. Increasing evidence suggests that the ATR-Chk1 axis, or at least Chk1, may promote tumor growth.

  • CHRM2

    The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. Mutations in this gene have been found to be associated with major depressive disorder and alcohol use disorder.

  • CHST14

    This gene encodes a member of the HNK-1 family of sulfotransferases. Mutations in this gene have been found to be associated with Ehlers-Danlos syndrome.

  • COA5

    This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane. Mutations in this gene have been found to be associated with cytochrome C oxidase deficiency.

  • COL11A1

    The COL11A1 gene provides instructions for making a component of type XI collagen called the pro-alpha1(XI) chain. Mutations in the COL11A1

    gene have been identified in people with fibrochondrogenesis type 1, Stickler syndrome, intervertebral disc disease, and osteoarthritis.

  • COL11A2

    The COL11A2 gene provides instructions for making a component of type XI collagen called the pro-alpha2(XI) chain. Mutations in this gene have been found to be associated with fibrochondrogenesis type 2, nonsyndromic hearing loss, otospondylomegaepiphyseal dysplasia, Weissenbacher-Zweymüller syndrome, and Stickler syndrome.

  • COL1A1

    The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Mutations in this gene have been found to be associated with Ehlers-Danlos syndrome, Caffey disease, osteogenesis imperfecta, dermatofibrosarcoma protuberans, and intervertebral disc disease.

  • COL1A2

    The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. Mutations in the COL1A2 gene can cause a form of Ehlers-Danlos syndrome known as the arthrochalasia type. Most COL1A2 gene mutations cause severe forms of osteogenesis imperfecta, including types II, III, and IV.

  • COL2A1

    The COL2A1 gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Mutations in the COL2A1 gene have been found to cause a form of achondrogenesis known as type 2 or the Langer-Saldino type. Mutations in this gene have also been found to be associated with Czech dysplasia, hypochondrogenesis, Kniest dysplasia, Legg-Calvé-Perthes disease, platyspondylic lethal skeletal dysplasia (Torrance type), spondyloepimetaphyseal dysplasia (Strudwick type), spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia, Stickler syndrome, avascular necrosis of the femoral head, and autosomal dominant rhegmatogenous retinal detachment.

  • COL3A1

    The COL3A1 gene provides instructions for making type III collagen. More than 500 mutations in the COL3A1 gene have been found to cause a form of Ehlers-Danlos syndrome called the vascular type.

  • COL4A1

    The COL4A1 gene provides instructions for making one component of type IV collagen. Mutations in the COL4A1 gene have been found to cause COL4A1-related brain small-vessel disease, familial porencephaly, and hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome.

  • COL5A1

    The COL5A1 gene provides instructions for making a component of type V collagen. Mutations in the COL5A1 gene cause keratoconus and a form of Ehlers-Danlos syndrome called the classical type.

  • COL5A2

    The COL5A2 gene provides instructions for making a component of type V collagen. Mutations in the COL5A2 gene have been identified in a small number of people with a form of Ehlers-Danlos syndrome called the classical type.

  • COL9A1

    The COL9A1 gene provides instructions for making part of a large molecule called type IX collagen. Mutations in the COL9A1 gene have been found to cause dominant multiple epiphyseal dysplasia and Stickler syndrome.

  • COL9A2

    The COL9A2 gene provides instructions for making part of a large molecule called type IX collagen. Mutations in the COL9A2 gene have been shown to cause dominant multiple epiphyseal dysplasia, intervertebral disc disease, and Stickler syndrome.

  • COL9A3

    The COL9A3 gene provides instructions for making part of a large molecule called type IX collagen. Mutations in the COL9A3 gene have been shown to cause dominant multiple epiphyseal dysplasia, intervertebral disc disease, and Stickler syndrome.

  • COX15

    This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. Mutations in this gene have been found to be associated with cytochrome c oxidase deficiency and Leigh syndrome.

  • CRYAB

    The protein encoded by this gene has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Mutations in this gene have been found to be associated with familial dilated cardiomyopathy and myofibrillar myopathy.

  • CSRP3

    This gene encodes a member of the CSRP family of LIM domain proteins. Mutations in this gene have been found to be associated with familial hypertrophic cardiomyopathy and familial dilated cardiomyopathy.

  • CTF1

    This gene provides instructions for making a protein called sodium- and chloride-dependent creatine transporter 1. At least 80 mutations in this gene have been identified in people with X-linked creatine deficiency, a disorder that causes intellectual disability, behavioral problems, seizures, and muscle weakness.

  • CTNNA3

    This gene encodes a protein that belongs to the vinculin/alpha-catenin family. Mutations in this gene have been found to be associated with arrhythmogenic right ventricular dysplasia and arrhythmogenic right ventricular cardiomyopathy.

  • CYLD

    The CYLD gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. The CYLD protein acts as a tumor suppressor. Somatic mutations and reduced activity (expression) of the CYLD gene have also been identified in certain cancerous tumors. These cancers include multiple myeloma and cancers of the kidney, liver, uterus, and colon. At least 20 CYLD gene mutations have been identified in individuals with Brooke-Spiegler syndrome. More than 30 CYLD gene mutations have been identified in individuals with familial cylindromatosis. At least 22 mutations in the CYLD gene have been identified in individuals with multiple familial trichoepithelioma.

  • DDB2

    This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. Mutations in this gene have been found to be associated with xeroderma pigmentosum, an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight, which greatly increases the risk of developing skin cancer. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer.

  • DES

    The DESgene provides instructions for making a protein called desmin, which is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Mutations in the DES gene have been found to cause myofibrillar myopathy, arrhythmogenic right ventricular cardiomyopathy, and familial dilated cardiomyopathy.

  • DICER1

    The DICER1 gene provides instructions for making a protein that plays a role in regulating the activity (expression) of other genes. Mutations in the DICER1 gene cause DICER1 syndrome. People with this condition have an increased risk of developing many types of tumors, particularly certain tumors of the lungs (pleuropulmonary blastoma); kidneys (cystic nephroma); ovaries (Sertoli-Leydig tumors); and thyroid, a butterfly-shaped gland in the lower neck (multinodular goiter).

  • DIS3L2

    The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Mutations in this gene have been found to be associated with renal hamartomas nephroblastomatosis and fetal gigantism (Perlman syndrome) and kidney cancer.

  • DMD

    DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain. Mutations in this gene have been found to be associated with Duchenne and Becker forms of muscular dystrophy, an X-linked form of familial dilated cardiomyopathy, and familial dilated cardiomyopathy.

  • DOLK

    The DOLKgene provides instructions for making the dolichol kinase enzyme. At least six mutations in the DOLK gene have been found to cause DOLK-congenital disorder of glycosylation.

  • DSC2

    The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Mutations in this gene have been found to cause a form of keratoderma with woolly hair classified as type III and arrhythmogenic right ventricular cardiomyopathy.

  • DSE

    The protein encoded by this gene is a tumor-rejection antigen. Mutations in this gene have been found to be associated with Ehlers-Danlos syndrome.

  • DSG2

    This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Mutations in this gene have been found to be associated with arrhythmogenic right ventricular cardiomyopathy and Familial dilated cardiomyopathy.

  • DSP

    The DSP gene provides instructions for making a protein called desmoplakin. Mutations in the DSP gene have been found to cause a form of keratoderma with woolly hair classified as type II, arrhythmogenic right ventricular cardiomyopathy, and lethal acantholytic epidermolysis bullosa.

  • DTNA

    The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. Mutations in this gene have been found to be associated with Left ventricular noncompaction.

  • EFEMP2

    The EFEMP2 gene provides instructions for making a protein called EGF-containing fibulin extracellular matrix protein 2, which is also known as fibulin-4. At least three mutations in the EFEMP2 gene have been identified in people with cutis laxa.

  • EIF2AK4

    The EIF2AK4 gene provides instructions for making a protein that helps direct a cell's response to changes that could damage the cell. Mutations in the EIF2AK4 gene are the primary genetic cause of a condition called pulmonary veno-occlusive disease, and have also been found to cause pulmonary arterial hypertension.

  • ELAC2

    The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. Mutations in this gene have been found to cause prostate cancer, mitochondrial complex I deficiency, and combined oxidative phosphorylation deficiency 17.

  • ELN

    The ELN gene provides instructions for making a protein called tropoelastin. Mutations in this gene have been found to cause supravalvular aortic stenosis, cutis laxa, 7q11.23 duplication syndrome and Williams syndrome.

  • EMD

    The EMDgene provides instructions for making a protein called emerin. Although this protein is produced in many tissues, it appears to be particularly important for the normal function of muscles used for movement (skeletal muscles) and the heart (cardiac muscle). More than 100 mutations in the EMD gene have been reported in people with Emery-Dreifuss muscular dystrophy.

  • ENG

    The ENG gene provides instructions for making a protein called endoglin. This protein is found on the surface of cells, especially in the lining of developing arteries. Mutations in the ENG gene have been found to cause hereditary hemorrhagic telangiectasia type 1 and pulmonary arterial hypertension.

  • ERCC2

    The ERCC2 gene provides instructions for making a protein called XPD, an essential subunit of a group of proteins known as the general transcription factor IIH complex. At least 20 mutations in the ERCC2 gene have been found to cause trichothiodystrophy. Mutations in this gene are the most common cause of the photosensitive form of the condition, which is characterized by an extreme sensitivity to UV rays from sunlight. More than two dozen mutations in the ERCC2 gene have been identified in people with xeroderma pigmentosum, which greatly increases the risk of developing cancer.

  • ERCC3

    The ERCC3 gene provides instructions for making a protein called XPB. This protein is an essential subunit of the general transcription factor IIH (TFIIH) complex, which has two major functions, gene transcription and helping to repair damaged DNA. Mutations in the ERCC3 gene appear to be a rare cause of xeroderma pigmentosum, which greatly increases the risk of developing cancer.

  • ERCC4

    The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. Mutations in this gene are known to be associated with Fanconi anemia complementation group Q, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. Mutations in the ERCC4 gene also appear to be a cause of xeroderma pigmentosum, which greatly increases the risk of developing cancer.

  • ERCC5

    This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. Mutations in this gene cause xeroderma pigmentosum complementation group G, a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome.

  • EXT1

    The EXT1gene provides instructions for producing a protein called exostosin-1. This protein is found in the Golgi apparatus. About 480 mutations in the EXT1 gene have been identified in people with hereditary multiple osteochondromas type 1, a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas.

  • EXT2

    The EXT2 gene provides instructions for producing a protein called exostosin-2, which is found in the Golgi apparatus. About 220 mutations in the EXT2 gene have been identified in people with hereditary multiple osteochondromas type 2, a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. A genetic change resulting in the deletion of the EXT2 gene causes a condition called Potocki-Shaffer syndrome. People with this condition have multiple osteochondromas.

  • EYA4

    This gene encodes a member of the eyes absent (EYA) family of proteins. Mutations in this gene have been found to be associated with nonsyndromic hearing loss, familial dilated cardiomyopathy, and deafness.

  • FANCF

    Part of the Fanconi anemia complementation group. Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers, including acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract.

  • FANCG

    The FANCG protein is one of a group of proteins known as the FA core complex. This gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. More than 50 mutations in the FANCG gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities.

  • FANCI

    Part of the Fanconi anemia complementation group. This gene is associated with Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities.

  • FANCL

    This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). This gene is associated with Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities.

  • FANCM

    Part of the Fanconi anemia complementation group. This gene encodes the protein for complementation group M. It is associated with Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities.

  • FBLN5

    The FBLN5 gene provides instructions for making a protein called fibulin-5. This protein is part of a group of proteins called fibulins. Mutations in this gene have been found to be associated with age-related macular degeneration, cutis laxa, and age-related macular degeneration.

  • FBN1

    The FBN1 gene provides instructions for making a large protein called fibrillin-1. Mutations in this gene have been identified in people with acromicric dysplasia, isolated ectopia lentis, Marfan syndrome, Weill-Marchesani syndrome, familial thoracic aortic aneurysm and dissection, geleophysic dysplasia, Shprintzen-Goldberg syndrome, stiff skin syndrome and MASS syndrome.

  • FBN2

    The FBN2 gene provides instructions for making a large protein called fibrillin-2. More than 20 mutations in the FBN2 gene have been found to cause congenital contractural arachnodactyly.

  • FHL1

    The FHL1 gene provides instructions for making three versions (isoforms) of a protein that plays an important role in muscles used for movement (skeletal muscles) and in the heart (cardiac muscle). Mutations in the FHL1 gene have been found to cause Emery-Dreifuss muscular dystrophy, reducing body myopathy, X-linked scapuloperoneal myopathy, X-linked myopathy with postural muscle atrophy (XMPMA), and rigid spine syndrome.

  • FHL2

    This gene encodes a member of the four-and-a-half-LIM-only protein family. Mutations in this gene have been found to be associated with cardiovascular disease.

  • FHOD3

    The protein encoded by this gene is a member of the diaphanous-related formins (DRF). Mutations in this gene have been found to be associated with dilated cardiomyopathy.

  • FKBP14

    The FKBP14 gene provides instructions for making a protein called FK506 binding protein 14 (also known as FKBP22). Mutations in the FKBP14 gene are one cause of a rare form of Ehlers-Danlos syndrome called the kyphoscoliotic type (kEDS-FKBP14).

  • FKRP

    The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). Mutations in the FKRP gene have been found to cause Walker-Warburg syndrome, limb-girdle muscular dystrophy, and congenital muscular dystrophy type 1C (MDC1C).

  • FKTN

    The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. Mutations in the FKTN gene have been found to cause Fukuyama congenital muscular dystrophy, limb-girdle muscular dystrophy, Walker-Warburg syndrome, and dilated cardiomyopathy.

  • FLCN

    The FLCN gene provides instructions for making a protein called folliculin. Researchers have not determined the protein's function, but they believe it may act as a tumor suppressor. Several mutations in the FLCN gene have been identified in people with Birt-Hogg-Dubé syndrome, a condition characterized by multiple noncancerous (benign) skin tumors, an increased risk of other tumors, and lung cysts. Somatic mutations in the FLCN gene are probably associated with several types of nonhereditary (sporadic) tumors. Specifically, somatic FLCN mutations have been identified in some cases of clear cell renal cell carcinoma (a type of kidney cancer) and in some colon cancers.

  • FLNA

    The FLNA gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton. Mutations in this gene have been found to be associated with frontometaphyseal dysplasia, intestinal pseudo-obstruction, Melnick-Needles syndrome, otopalatodigital syndrome type 1 and 2, periventricular heterotopia, X-linked cardiac valvular dysplasia, and FG syndrome.

  • FLNC

    This gene encodes one of three related filamin genes, specifically gamma filamin. Mutations in this gene have been found to be associated with myofibrillar myopathy and familial cardiomyopathy.

  • FOXC2

    The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. More than 50 mutations in the FOXC2 gene can cause lymphedema-distichiasis syndrome.

  • FOXE3

    This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene have been found to be associated with anterior segment mesenchymal dysgenesis, congenital primary aphakia, cataract 34, and aortic aneurysm.

  • FOXF1

    The FOXF1 gene provides instructions for making the forkhead box F1 (FOXF1) protein. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Mutations in the FOXF1 gene have been identified in infants with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV).

  • FOXRED1

    This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. Mutations in this gene have been found to be associated with mitochondrial complex I deficiency and Leigh syndrome.

  • GATA2

    This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. Mutations in this gene are known to be associated with myelodysplastic syndrome, a premalignant condition that often progresses to acute myeloid leukemia.

  • GATAD1

    The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy.

  • GDF2

    This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Mutations in this gene have been found to be associated with hereditary hemorrhagic telangiectasia.

  • GJA5

    This gene is a member of the connexin gene family. Mutations in this gene have been found to be associated with Progressive familial heart block and familial atrial fibrillation.

  • GLB1

    The GLB1 gene provides instructions for producing an enzyme called beta-galactosidase (β-galactosidase). Mutations in the GLB1 gene have been found to cause GM1 gangliosidosis and mucopolysaccharidosis type IV.

  • GPC3

    The GPC3 gene provides instructions for making a protein called glypican 3, which is involved in numerous cell functions, including regulating cell growth and division (cell proliferation) and cell survival. More than 50 mutations in the GPC3 gene have been identified in people with Simpson-Golabi-Behmel syndrome. Mutations in the GPC3 gene prevent glypican 3 from inhibiting the hedgehog signaling pathway. The resulting overactivity of this pathway leads to an increased rate of cell growth and division starting before birth.

  • GPD1L

    The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. Mutations in this gene are known to cause Brugada syndrome.

  • HCN4

    The HCN4 gene provides instructions for making a channel that transports positively charged atoms (ions) into heart muscle cells. Mutations in the HCN4 gene have been identified in people with sick sinus syndrome, Brugada syndrome and left ventricular noncompaction.

  • HRAS

    The HRAS gene provides instructions for making a protein called H-Ras that is involved primarily in regulating cell division. At least 15 mutations in the HRAS gene have been identified in people with Costello syndrome, a rare condition that affects many parts of the body and increases the risk of developing cancerous and noncancerous tumors. Mutations in the HRAS gene are involved in the development of abnormal, noncancerous patches of skin called epidermal nevi, as well as bladder cancer, and several other types of cancer.

  • ILK

    This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats.

  • JAG1

    The JAG1 gene provides instructions for making a protein called Jagged-1, which is involved in an important pathway by which cells can signal to each other. Mutations in the JAG1 gene have been identified in people with Alagille syndrome, breast cancer and head and neck tumors.

  • JPH2

    This gene is a member of the junctophilin gene family. Mutations in this gene have been found to be associated with familial hypertrophic cardiomyopathy.

  • JUP

    The JUP gene provides instructions for making a protein called plakoglobin. This protein is found primarily in cells of the heart and skin. Mutations in this gene have been found to be associated with arrhythmogenic right ventricular cardiomyopathy, lethal congenital epidermolysis bullosa and keratoderma with woolly hair classified as type I.

  • KCNA5

    This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. Mutations in this gene have been found to be associated with pulmonary arterial hypertension and familial atrial fibrillation.

  • KCNB2

    This gene encodes the Potassium voltage-gated channel subfamily B member 2 protein. Mutations in this gene have been found to be associated with Brugada syndrome.

  • KCNH2

    The KCNH2 gene belongs to a large family of genes that provide instructions for making potassium channels. Mutations in the KCNH2 gene can cause Romano-Ward syndrome, short QT syndrome, and familial atrial fibrillation.

  • KCND3

    This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily. Mutations in this gene have been found to be associated with Brugada syndrome and spinocerebellar ataxia 19.

  • KCNE1

    The KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. Mutations in the KCNE1 gene have been identified in people with Jervell and Lange-Nielsen syndrome and long QT syndrome.

  • KCNE1L

    This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Mutations in this gene have been found to be associated with Brugada syndrome.

  • KCNE2

    This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. Mutations in this gene have been found to be associated with familial atrial fibrillation and long QT syndrome 6.

  • KCNE3

    This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. Mutations in this gene have been found to be associated with Brugada syndrome.

  • KCNJ16

    The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. Mutations in this gene are linked to autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome.

  • KCNJ2

    The KCNJ2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged potassium ions out of cells, play key roles in a cell's ability to generate and transmit electrical signals. Mutations in this gene have been found to be associated with Andersen-Tawil syndrome, short QT syndrome, and familial atrial fibrillation.

  • KCNJ5

    The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium (K+) into and out of cells. Mutations in the KCNJ5 gene have been found to be associated with aldosterone-producing adenomas, familial hyperaldosteronism type III, Andersen-Tawil syndrome, and Romano-Ward syndrome.

  • KCNJ8

    The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. Mutations in this gene can cause Brugada syndrome and may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG).

  • KCNK3

    This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. Mutations in this gene have been found to be associated with pulmonary arterial hypertension and primary pulmonary hypertension 4.

  • KCNQ1

    The KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals. Mutations in this gene can cause familial atrial fibrillation, Jervell and Lange-Nielsen syndrome, Romano-Ward syndrome, short QT syndrome, gestational diabetes, and several conditions related to heart rhythm abnormalities.

  • KCNT1

    The KCNT1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. Mutations have been found in individuals with malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy.

  • KLF10

    This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer.

  • KIT

    The KIT gene provides instructions for making a protein that belongs to a family of proteins called receptor tyrosine kinases. Mutations in the KIT gene are the most common genetic changes associated with gastrointestinal stromal tumors. KIT gene mutations are involved in some cases of acute myeloid leukemia, sinonasal natural killer/T-cell lymphoma, and testicular cancer.

  • KRAS

    The KRAS gene provides instructions for making a protein called K-Ras that is part of a signaling pathway known as the RAS/MAPK pathway. The KRAS gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. Mutations in this gene have been found to be associated with cardiofaciocutaneous syndrome, Noonan syndrome, autoimmune lymphoproliferative syndrome, cholangiocarcinoma, core binding factor acute myeloid leukemia, epidermal nevus, lung cancer, pancreatic cancer and colorectal cancer.

  • LAMA4

    Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene have been found to be associated with dilated cardiomyopathy.

  • LAMP2

    The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Mutations in this gene have been found to Danon disease.

  • LDB3

    The LDB3 gene provides instructions for making a protein called LIM domain binding 3 (LDB3). The LDB3 protein is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Mutations in the LDB3 gene have been found to cause myofibrillar myopathy, familial dilated cardiomyopathy and left ventricular noncompaction.

  • LMNA

    The LMNA gene provides instructions for making several slightly different proteins called lamins. Mutations in this gene have been found to be associated with Charcot-Marie-Tooth disease known as type 2B1, Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy type 2, Hutchinson-Gilford progeria syndrome, limb-girdle muscular dystrophy type 1B, LMNA-related congenital muscular dystrophy, mandibuloacral dysplasia type A, arrhythmogenic right ventricular cardiomyopathy, familial atrial fibrillation, familial dilated cardiomyopathy, left ventricular noncompaction, and lethal restrictive dermopathy.

  • LTBP4

    The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. Mutations in this gene have been found to be associated with Duchenne muscular dystrophy, cutis laxa, and Urban-Rifkin-Davis syndrome.

  • MAP2K1

    The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. Mutations in the MAP2K1 gene have been identified in people with cardiofaciocutaneous syndrome, melorheostosis, Noonan syndrome with multiple lentigines, Langerhans cell histiocytosis, lung cancer, and melanoma.

  • MAP2K2

    The MAP2K2 gene provides instructions for making a protein known as MEK2 protein kinase. Mutations in this gene have been found to cause cardiofaciocutaneous syndrome.

  • MAP3K8

    This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. Mutations in this gene have been found to be linked to lung cancer.

  • MAT2A

    The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. Diseases associated with MAT2A include Acute Maxillary Sinusitis and Glycine N-Methyltransferase Deficiency.

  • MITF

    The MITF gene provides instructions for making a protein called melanogenesis associated transcription factor. This protein plays a role in the development, survival, and function of certain types of cells. MITF gene mutations have been found in people with an aggressive form of skin cancer called melanoma.

  • MED12

    The MED12 gene provides instructions for making a protein called mediator complex subunit 12. Mutations in the MED12 gene have been found to cause FG syndrome, Lujan syndrome, the Maat-Kievit-Brunner type of Ohdo syndrome, prostate cancer, schizophrenia, and several types of tumors.

  • MUTYH

    The MUTYH gene provides instructions for making an enzyme called MYH glycosylase, which is involved in the repair of DNA. Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis (also called MYH-associated polyposis). Mutations in this gene affect the ability of cells to correct errors made during DNA replication.

  • NF2

    The NF2 gene provides instructions for the production of a protein called merlin, which is made in the nervous system. More than 400 mutations in the NF2 gene have been identified in people with neurofibromatosis type 2, a disorder characterized by the growth of noncancerous (benign) tumors in the nervous system. The most common tumors associated with this condition are bilateral vestibular schwannomas, which develop along the nerves that carry information from the inner ear to the brain (the auditory nerves).

  • PHOX2B

    The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). Several mutations in the PHOX2B gene have been identified in people with neuroblastoma, a type of cancerous tumor composed of immature nerve cells (neuroblasts). Variations in the PHOX2B gene have been associated with increased risk of certain other disorders involving the autonomic nervous system and tissues derived from the neural crest.

  • PIK3CA

    The PIK3CA gene provides instructions for making the p110 alpha (p110α) protein, which is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). Mutations in the PIK3CA gene have been found to cause Klippel-Trenaunay syndrome, megalencephaly-capillary malformation syndrome, epidermal nevi, head and neck squamous cell carcinoma, head and neck squamous cell carcinoma, and many types of cancer, including cancer of the ovary, breast, lung, brain, and stomach.

  • PRKAR1A

    The PRKAR1A gene provides instructions for making one part (subunit) of an enzyme called protein kinase A. This enzyme promotes cell growth and division (proliferation). More than 117 mutations in the PRKAR1A gene have been found to cause Carney complex, a disorder characterized by an increased risk of several types of tumors.

  • RAD51B

    The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. Mutations in this gene are associated with pulmonary chondroid hamartoma and uterine leiomyoma, increasing the risk of kidney cancer.

  • RB1

    The RB1 gene provides instructions for making a protein called pRB. This protein acts as a tumor suppressor, which means that it regulates cell growth and keeps cells from dividing too fast or in an uncontrolled way. Hundreds of mutations in the RB1 gene have been identified in people with retinoblastoma, a rare type of eye cancer that typically affects young children. Mutations in the RB1 gene are associated with bladder cancer and have been reported in some cases of lung cancer, breast cancer, a bone cancer known as osteosarcoma, and melanoma.

  • RECQL4

    The RECQL4 gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. Mutations in the RECQL4 gene have been identified in people with Baller-Gerold syndrome, RAPADILINO syndrome, and Rothmund-Thomson syndrome, which increase the risks for various types of cancer.

  • RHBDF2

    This gene encodes the inactive rhomboid protease RHBDF2 (also known as iRhom2). RHBDF2 mutations are associated with Tylosis, a familial esophageal cancer syndrome.

  • SBDS

    The SBDS gene provides instructions for making a protein whose function is unknown. Because mutations in this gene cause health problems affecting many body systems, researchers believe that the SBDS protein has an essential function in cells throughout the body. Studies suggest that the SBDS protein may play a role in processing RNA. At least 20 mutations in the SBDS gene have been identified in people with Shwachman-Diamond syndrome.

  • SDHAF2

    The SDHAF2 gene provides instructions for making a protein that interacts with the succinate dehydrogenase (SDH) enzyme, and it is also a tumor suppressor. At least one mutation in the SDHAF2 gene has been identified in people with hereditary paraganglioma-pheochromocytoma type 2. People with this condition have paragangliomas, pheochromocytomas, or both. These noncancerous (benign) tumors are associated with the nervous system.

  • SDHB

    The SDHB gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. Mutations in the SDHB gene have been identified in people with Cowden syndrome or a similar disorder called Cowden-like syndrome. These conditions are characterized by multiple tumor-like growths called hamartomas and an increased risk of developing certain cancers, particularly breast cancer, thyroid cancer, and cancer of the uterine lining (endometrial cancer). Mutations in the SDHB gene have been found in people with gastrointestinal stromal tumors (GISTs), which are a type of tumor that occurs in the gastrointestinal tract, or renal cell carcinoma, which is a type of kidney cancer. SDHB gene mutations have been identified in people a condition called Carney-Stratakis syndrome. An inherited SDHB gene mutation predisposes an individual to cancer formation. An additional mutation that deletes the normal copy of the gene is needed to cause these forms of GIST, renal cell cancer, and paraganglioma.

  • SDHC

    The SDHC gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. It is a tumor suppressor. More than 30 mutations in the SDHC gene have been found to increase the risk of hereditary paraganglioma-pheochromocytoma type 3, which can lead to the development of tumors. Mutations in the SDHC gene have been found in a small number of people with gastrointestinal stromal tumor (GIST) and people with noncancerous tumors associated with the nervous system called paragangliomas or pheochromocytomas (a type of paraganglioma). Some affected individuals have both paraganglioma and GIST, which is called Carney-Stratakis syndrome. An inherited SDHC gene mutation predisposes an individual to cancer formation.

  • SDHD

    The SDHD gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. It is a tumor suppressor. More than 100 mutations in the SDHD gene have been identified in people with hereditary paraganglioma-pheochromocytoma type 1. People with this condition have paragangliomas, pheochromocytomas, or both. These noncancerous (benign) tumors are associated with the nervous system. When Cowden syndrome and Cowden-like syndrome are caused by SDHD gene mutations, the conditions are associated with a particularly high risk of developing breast and thyroid cancers. Mutations in this gene are also associated with gastrointestinal stromal tumors and Carney-Stratakis syndrome.

  • SLX4

    This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia, a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.

  • SMARCB1

    The SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. Mutations in the SMARCB1 gene have been found to cause Coffin-Siris syndrome and have also been associated with rhabdoid tumor predisposition syndrome (RTPS) which is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These tumors most often occur in the brain and spinal cord (central nervous system) or in the kidney, but they can occur in other organs and tissues of the body. Some affected children also develop noncancerous (benign) tumors called schwannomas, which grow on nerves. Women with RTPS are at increased risk of developing a rare type of ovarian cancer called small cell cancer of the ovary, hypercalcemic type (SCCOHT).

  • SUFU

    This gene encodes a negative regulator of the hedgehog signaling pathway. Mutations in this gene are associated with medulloblastoma, a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. It has also been linked to Gorlin syndrome, Joubert syndrome 32, and familial meningioma.

  • TMEM127

    The TMEM127 gene provides instructions for making a protein that acts as a tumor suppressor. Mutations in the TMEM127 gene increase the risk of developing a noncancerous tumor associated with the nervous system called paraganglioma or pheochromocytoma.

  • TSC1

    The TSC1 gene provides instructions for producing a protein called hamartin, whose function is not fully understood. Hamartin carries out its tumor suppressor function by interacting with and regulating a wide variety of other proteins. Mutations in the TSC1 gene can cause a disorder called lymphangioleiomyomatosis (LAM), a destructive lung disease caused by the abnormal overgrowth of smooth muscle-like tissue in the lungs. Mutations in TSC1 are also associated with bladder cancer and tuberous sclerosis complex, a condition characterized by developmental problems and the growth of noncancerous tumors in many parts of the body.

  • TSC2

    The TSC2 gene provides instructions for producing a protein called tuberin, whose function is not fully understood. It is a tumor suppressor. Mutations in the TSC2 gene cause most cases of a disorder called lymphangioleiomyomatosis (LAM). This destructive lung disease is characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs. More than 1,100 mutations in the TSC2 gene have been identified in individuals with tuberous sclerosis complex, a condition characterized by developmental problems and the growth of noncancerous tumors in many parts of the body.

  • WRN

    The WRN gene provides instructions for producing the Werner protein, which plays a critical role in repairing damaged DNA. It helps maintain the structure and integrity of a person's DNA. More than 60 mutations in the WRN gene are known to cause Werner syndrome. Hypermethylation of the WRN gene has been found in many different types of tumors, including colon, rectal, lung, stomach, prostate, breast, and thyroid tumors.

  • WT1

    The WT1 gene provides instructions for making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in males). Mutations in the WT1 gene can cause Wilms tumor, a rare form of kidney cancer that usually occurs in early childhood, as well as prostate cancer. Changes in the activity (expression) of the WT1 gene are associated with several other forms of cancer. In particular, the WT1 gene is abnormally expressed in certain types of lung, prostate, breast, and ovarian cancer. Abnormal expression of the WT1 gene also occurs in some cancers of blood-forming cells (leukemias), such as acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), and childhood acute myeloid leukemia (AML).

  • XPA

    The XPA gene provides instructions for making a protein that is involved in repairing damaged DNA. At least 25 mutations in the XPA gene have been found to cause xeroderma pigmentosum, which greatly increases a person’s risk of developing skin cancer.

  • XPC1

    The XPC1 gene provides instructions for making a protein that is involved in repairing damaged DNA. Mutations in the XPC1 gene have been found to cause xeroderma pigmentosum, which greatly increases the risk of developing skin cancer.

  • MMADHC

    The MMADHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fats (lipids), and cholesterol. At least seven mutations in the MMADHC gene cause a condition called homocystinuria, which is characterized by skeletal problems and intellectual disability. At least three mutations in the MMADHC gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems. At least three MMADHC gene mutations can cause methylmalonic acidemia with homocystinuria, cblD type, one form of a condition that has features of both of the two previously described conditions.

  • ZNF469

    This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome.

  • XK

    The XK gene provides instructions for producing a protein that is found in various tissues of the body, particularly the brain, muscle, and heart. Approximately 30 mutations in the XK gene have been found to cause McLeod neuroacanthocytosis syndrome. Most of these mutations lead to the production of an abnormally short, nonfunctional XK protein or cause no XK protein to be produced at all. Missing or abnormal XK protein also affects another blood group antigen, the Kell protein, causing it to be less prevalent on the surface of red blood cells. How mutations in the XK gene cause the misshapen red blood cells and movement problems characteristic of McLeod neuroacanthocytosis syndrome is unknown.

  • VCL

    Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Cardiomyopathy, familial hypertrophic 15 (CMH15) is a hereditary heart disorder linked to VCL that is characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. Cardiomyopathy, dilated 1W (CMD1W) is another disorder linked to VCL that is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.

  • UPF3B

    This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. Mental retardation, X-linked, syndromic, 14 (MRXS14) is a disorder linked to UPF3B that is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

  • TXNRD2

    The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. Maintains thioredoxin in a reduced state. Implicated in the defenses against oxidative stress. May play a role in redox-regulated cell signaling.

  • TTR

    The TTR gene provides instructions for producing a protein called transthyretin. This protein transports vitamin A (retinol) and a hormone called thyroxine throughout the body.

    More than 100 mutations in the TTR gene have been found to cause transthyretin amyloidosis. Nearly all of these mutations change one protein building block (amino acid) in the transthyretin protein. Most of the TTR gene mutations that cause transthyretin amyloidosis are thought to alter the structure of transthyretin, impairing its ability to bind to other transthyretin proteins and altering its normal function. In elderly people, deposits of transthyretin protein cause a condition called senile systemic amyloidosis. The most common place for amyloidosis in people with this condition is the heart, causing slowly progressive heart failure. Other sites of amyloidosis may include the lungs, blood vessels, and kidneys. It is estimated that 10 percent to 25 percent of people older than 80 have senile systemic amyloidosis.

  • TTN

    The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Slightly different versions (called isoforms) of titin are made in different muscles.

    At least 12 mutations in the TTN gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles. At least two mutations in the TTN gene have been identified in people with early-onset myopathy with fatal cardiomyopathy (EOMFC), an inherited muscle disease that affects both skeletal and cardiac muscle. More than 50 mutations in the TTN gene have been found to cause familial dilated cardiomyopathy, a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. At least one mutation in the TTN gene has been found to cause hereditary myopathy with early respiratory failure (HMERF), an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. At least one TTN gene mutation has been found to cause limb-girdle muscular dystrophy type 2J (LGMD2J). Several mutations in the TTN gene have been identified in people with tibial muscular dystrophy, a condition that primarily affects the muscles at the front of the lower leg. Mutations in the TTN gene can also cause a disorder of the cardiac muscle called familial hypertrophic cardiomyopathy type 9.

  • TSFM

    This gene encodes a mitochondrial translation elongation factor. Combined oxidative phosphorylation deficiency 3 (COXPD3) is a mitochondrial disease linked to TSFM resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy.

  • TRPM4

    The TRPM4 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 4 (TRPM4). TRPM4 channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm. A few mutations in the TRPM4 gene have been found to cause progressive familial heart block. This condition alters the normal beating of the heart and can lead to fainting (syncope) or sudden cardiac arrest and death.

  • TRIM63

    This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. . Diseases associated with TRIM63 include Muscle Tissue Disease.

  • TRDN

    This gene encodes an integral membrane protein that contains a single transmembrane domain. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats. Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (CPVT5) is an arrhythmogenic disorder linked to TRDN characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death.

  • TPM1

    This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Cardiomyopathy, familial hypertrophic 3 (CMH3) is a hereditary heart disorder linked to TPM1 characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. Cardiomyopathy, dilated 1Y (CMD1Y) is a disorder also linked to TPM1 characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. TPM1 is also associated with Left ventricular non-compaction 9 (LVNC9) is a form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function.

  • TNNT2

    The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle. Mutations in the TNNT2 gene can cause familial hypertrophic cardiomyopathy, a condition characterized by thickening (hypertrophy) of the cardiac muscle. Mutations in the TNNT2 gene have been found in people with other heart conditions, including dilated cardiomyopathy and left ventricular noncompaction.

  • TNNI3

    The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart (cardiac) muscle. Mutations in the TNNI3 gene can cause familial hypertrophic cardiomyopathy, a condition characterized by thickening (hypertrophy) of the cardiac muscle. Approximately 10 mutations in the TNNI3 gene have been found to cause familial restrictive cardiomyopathy, which is characterized by stiffening of the heart muscle. Mutations in the TNNI3 gene can also cause another heart conditions called dilated cardiomyopathy. This condition weakens and enlarges the heart, preventing it from pumping blood efficiently. Dilated cardiomyopathy increases the risk of heart failure and premature death

  • TNNC1

    Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Cardiomyopathy, dilated 1Z (CMD1Z) is a disorder linked to TNNC1 characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.

  • TMPO

    The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope.

  • TMEM70

    The TMEM70 gene provides instructions for making a protein called transmembrane protein 70. This protein is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. At least 12 mutations in the TMEM70 gene have been identified in people who have mitochondrial complex V deficiency, a disorder with a wide variety of signs and symptoms.

  • TMEM43

    This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. TMEM43 is also associated with Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) is a form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

  • TGFBR2

    The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell such as stimulation of cell growth and division. At least nine TGFBR2 gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). More than 100 mutations in the TGFBR2 gene have been found to cause Loeys-Dietz syndrome type II. Some TGFBR2 gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited.

  • TGFBR1

    The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell such as stimulation of cell growth and division. More than 35 mutations in the TGFBR1 gene have been found to cause Loeys-Dietz syndrome type I. More than 10 mutations in the TGFBR1 gene have been found to increase the risk of developing a form of skin cancer called multiple self-healing squamous epithelioma (MSSE). People with MSSE have a mutation in one copy of the TGFBR1 gene in each cell. An additional mutation in the second copy of the TGFBR1 gene is needed for tumors to form in MSSE. The second mutation, which is called a somatic mutation, is found only in the tumor cells and is not inherited.

  • TGFB3

    The TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3). This protein is found throughout the body and is required for development before birth and throughout life. At least 11 mutations in the TGFB3 gene have been found to cause Loeys-Dietz syndrome type V. This disorder affects connective tissue, which gives structure and support to blood vessels, the skeleton, and many other parts of the body.

  • TGFB2

    The TGFB2 gene provides instructions for producing a protein called transforming growth factor beta-2 (TGFβ-2). This protein is found throughout the body and is required for development before birth and throughout life. At least 20 mutations in the TGFB2 gene have been found to cause Loeys-Dietz syndrome type IV. This disorder affects connective tissue, which gives structure and support to blood vessels, the skeleton, and many other parts of the body.

  • TCAP

    Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. Limb-girdle muscular dystrophy 2G (LGMD2G) os an autosomal recessive degenerative myopathy associated with TCAP characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. TCAP is also associated with Cardiomyopathy, familial hypertrophic 25 (CMH25) is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum.

  • TBX5

    The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. During embryonic development, the T-box 5 protein turns on (activates) genes involved in the normal development of the hands and arms (upper limbs). The T-box 5 protein also activates genes that play an important role in the growth and development of the heart. This protein appears to be particularly important for the formation of the wall (septum) that separates the right and left sides of the heart. More than 70 mutations in the TBX5 gene have been found to cause Holt-Oram syndrome.

  • TBX1

    The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. The T-box 1 protein appears to be necessary for the normal development of muscles and bones of the face and neck, large arteries that carry blood out of the heart, structures in the ear, and glands such as the thymus and parathyroid. Most cases of 22q11.2 deletion syndrome are caused by a deletion of a small piece of chromosome 22. This region of the chromosome contains 30 to 40 genes, including the TBX1 gene.

  • SYNE2

    Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) is a form of Emery-Dreifuss muscular dystroph it is associated with SYNE2, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

  • SYNE1

    The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). At least seven mutations in the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1).

  • SPRY1

    The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). At least seven mutations in the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1).

  • SOS1

    The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). At least seven mutations in the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1).

  • SNTA1

    Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. SNTA1 is associated with Long QT syndrome 12 (LQT12), a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias.

  • SMS

    The SMS gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines also appear to be necessary for normal development of the brain and other parts of the body. At least four mutations in the SMS gene have been found to cause Snyder-Robinson syndrome, a condition characterized by intellectual disability and bone and muscle abnormalities.

  • SMAD9

    The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. MAD9 is associated with pulmonary hypertension, primary, 2 (PPH2), a rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death.

  • SMAD3

    The SMAD3 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. Through the TGF-β signaling pathway, the SMAD3 protein also influences many aspects of cellular processes, including cell growth and division (proliferation), cell movement (migration), and controlled cell death (apoptosis). At least 35 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III. This disorder affects connective tissue, which gives structure and support to blood vessels, the skeleton, and many other parts of the body.

  • SLMAP

    This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants.

  • SLC39A13

    This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome.

  • SLC2A10

    The SLC2A10 gene provides instructions for making a protein called GLUT10. GLUT10 is classified as a glucose transporter; this type of protein moves the simple sugar glucose across cell membranes and helps maintain proper levels of glucose within cells. At least 23 SLC2A10 gene mutations have been identified in people with arterial tortuosity syndrome, a connective tissue disorder characterized by abnormal curving and twisting (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (arteries) and other health problems. Several normal variations (polymorphisms) of the SLC2A10 gene have been associated with an increased risk of peripheral artery disease in people with type 2 diabetes, a disorder in which resistance to the hormone insulin leads to excess glucose levels in the blood (hyperglycemia).

  • SLC25A4

    The SLC25A4 gene provides the instructions for making a protein called adenine nucleotide translocase type 1 (ANT1). ANT1 functions in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. At least five mutations in the SLC25A4 gene have been reported to cause an eye condition called progressive external ophthalmoplegia. This disorder weakens the muscles that control eye movement and causes the eyelids to droop (ptosis). Mutations in the SLC25A4 gene can also cause a disorder characterized by myopathy and hypertrophic cardiomyopathy. Myopathy is weakness of the muscles used for movement, and cardiomyopathy is a thickening of the heart muscle that forces the heart to work harder to pump blood.

  • SLC25A3

    The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. SLC25A3 is associated with mitochondrial phosphate carrier deficiency (MPCD), fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life.

  • SKI

    The SKI gene provides instructions for making a protein involved in a signaling pathway that transmits chemical signals from the cell surface to the nucleus. The SKI protein is found in many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brain. At least 10 mutations in the SKI gene have been found in people with Shprintzen-Goldberg syndrome, a condition characterized by distinctive facial features, skeletal abnormalities, and intellectual disability.

  • SGCD

    The SGCD gene provides instructions for making the delta component (subunit) of a group of proteins called the sarcoglycan protein complex. At least 14 mutations in the SGCD gene have been identified in people with limb-girdle muscular dystrophy type 2F. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs. A small number of people who develop dilated cardiomyopathy without skeletal muscle involvement have been found to have a mutation in one copy of the SGCD gene in each cell, an inheritance pattern called autosomal dominant.

  • SCO2

    Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. SCO2 is associated with leigh syndrome (LS): An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. SCO2 is also associated with myopia 6 (MYP6) is a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. Cardioencephalomyopathy is found to be linked to SCO2 which is a fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1): A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency.

  • SCNN1A

    The SCNN1A gene provides instructions for making one piece, the alpha subunit, of a protein complex called the epithelial sodium channel (ENaC). At least a dozen mutations in the SCNN1A gene cause pseudohypoaldosteronism type 1 (PHA1). This condition typically begins in infancy and is characterized by low levels of sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood and severe dehydration. Some people with cystic fibrosis-like syndrome have a mutation or a normal gene variation (polymorphism) in the SCNN1A gene.

  • SCN5A

    The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm. More than 400 mutations in the SCN5A gene have been identified in people with Brugada syndrome, which is a heart condition characterized by an irregular heart rhythm (arrhythmia). A few mutations in the SCN5A gene have been found to cause progressive familial heart block. At least 238 mutations in the SCN5A gene are known to cause Romano-Ward syndrome, which is the most common form of an arrhythmia called long QT syndrome. At least 16 mutations in the SCN5A gene have been found to cause another heart condition called sick sinus syndrome. Variations in the SCN5A gene are associated with several other heart conditions and have also been identified in some cases of sudden infant death syndrome (SIDS) .

  • SCN4B

    The protein encoded by this gene is one of several sodium channel beta subunits. SCN4B is associated with atrial fibrillation, familial, 17 (ATFB17): A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. In addition to being linked to Long QT syndrome 10 (LQT10): A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias.

  • SCN3B

    Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. SCN2B is linked to atrial fibrillation, familial, 16 (ATFB16): A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance and brugada syndrome 7 (BRGDA7): A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG).

  • SCN1B

    Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.

    Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.

  • SCN10A

    The SCN10A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals. Mutations in the SCN10A gene account for approximately 5 percent of cases of small fiber neuropathy, a condition characterized by severe pain attacks and a reduced ability to differentiate between hot and cold. Certain common variants (polymorphisms) in the SCN10A gene have been found to increase the risk of developing an irregular heartbeat (arrhythmia).

  • SCARF2

    The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). SCARF2 has been found to be associated with Van den Ende-Gupta syndrome (VDEGS): A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, down-slanting eyes, arachnodactyly, and camptodactyly.

  • RYR2

    The RYR2 gene provides instructions for making a protein called ryanodine receptor 2. This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (calcium ions) within cells. More than 70 mutations in the RYR2 gene have been found to cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Several other mutations in the RYR2 gene have been found to cause a heart condition called arrhythmogenic right ventricular cardiomyopathy (ARVC). The RYR2 gene mutations responsible for ARVC change single amino acids in the ryanodine receptor 2 protein. These mutations alter the structure of the RYR2 channel, which probably allows calcium ions to "leak" out of the sarcoplasmic reticulum. This failure of calcium regulation within myocytes can trigger the abnormal heart rhythm characteristic of ARVC.

  • RIT1

    The RIT1 gene provides instructions for making a protein that helps cells survive during periods of cellular stress, such as unusually high energy demands. The RIT1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The RIT1 gene is in the Ras family of oncogenes, which also includes three other genes: KRAS, HRAS, and NRAS. These proteins play important roles in cell division, cell differentiation, and the self-destruction of cells (apoptosis). At least 14 mutations in the RIT1 gene have been found to cause Noonan syndrome. Mutations in the RIT1 gene have been found in several different types of blood cell cancer (leukemia), including acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML), and a bone marrow disease called myelodysplastic syndrome (MDS).

  • RIN2

    The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. MACS syndrome (MACS) is linked to RIN2, which is a complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.

  • RBM20

    This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. This gene has been linked to cardiomyopathy, dilated 1DD (CMD1DD): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

  • RASA2

    The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. This gene is associated with Noonan syndrome

  • RASA1

    The RASA1 gene provides instructions for making a protein called p120-RasGAP. This protein helps regulate the RAS/MAPK signaling pathway, which transmits signals from outside the cell to the cell's nucleus. The exact role of p120-RasGAP is not fully understood. However, it appears to be essential for the normal development of the vascular system, which is the complex network of arteries, veins, and capillaries that carry blood to and from the heart.

    Several dozen mutations in the RASA1 gene have been found to cause capillary malformation-arteriovenous malformation syndrome (CM-AVM), which is a condition characterized by abnormalities of the vascular system. Several mutations in the RASA1 gene have been identified in people with Parkes Weber syndrome.

  • RANGRF

    This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. RANGRF is associated with brugada syndrome.

  • RAF1

    The RAF1 gene provides instructions for making a protein that is part of a signaling pathway called the RAS/MAPK pathway, which transmits chemical signals from outside the cell to the cell's nucleus. More than 25 mutations causing Noonan syndrome have been identified in the RAF1 gene. Noonan syndrome is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. At least two mutations in the RAF1 gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a sunken or protruding chest, and distinctive facial features. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. Somatic mutations in the RAF1 gene are involved in the development of several types of cancer.

  • PYCR1

    This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. PYCR1 is linked to cutis laxa, autosomal recessive, 2B (ARCL2B): A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities.

  • PTPN11

    The PTPN11 gene provides instructions for making a protein called SHP-2. This protein helps regulate the RAS/MAPK signaling pathway. More than 90 mutations causing Noonan syndrome have been identified in the PTPN11 gene. This condition is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. At least 11 mutations in the PTPN11 gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). Gene mutations can be acquired during a person's lifetime and are present only in certain cells. This type of mutation is called a somatic mutation, and it is not inherited. Mutations in the PTPN11 gene can cause a condition called metachondromatosis.

  • PRKG1

    Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala.

  • PRKAG2

    The PRKAG2 gene provides instructions for making one part (the gamma-2 subunit) of a larger enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is active in many different tissues, including heart (cardiac) muscle and muscles used for movement (skeletal muscles). AMP-activated protein kinase is likely involved in the development of the heart before birth, although its role in this process is unknown. At least seven mutations that cause Wolff-Parkinson-White syndrome have been identified in the PRKAG2 gene. Some people with these mutations also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and weakens the heart (cardiac) muscle. Several mutations in the PRKAG2 gene have been found in people with other heart conditions. For example, a specific mutation in this gene is responsible for a very severe form of heart disease called lethal congenital glycogen storage disease of the heart.

  • PRDM5

    The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. PRDM5 has been linked to brittle cornea syndrome 2 (BCS2): A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.

  • PRDM16

    The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). PRDM16 has been shown to be linked to left ventricular non-compaction 8 (LVNC8): A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Cardiomyopathy, dilated 1LL (CMD1LL), a disorder associated with PRDM16 characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

  • PLOD3

    The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. PLOD3 is linked to lysyl hydroxylase 3 deficiency (LH3 deficiency): Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen).

  • PLOD1

    The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. More than 30 mutations in the PLOD1 gene have been found to cause a form of Ehlers-Danlos syndrome called the kyphoscoliotic type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues.

  • PLN

    The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. PLN is associated with CMH18 and CMD1P. Cardiomyopathy, familial hypertrophic 18 (CMH18): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum.

  • PLEC

    The PLEC gene provides instructions for making a protein called plectin. This protein is produced in many different tissues in the body, including skin and muscle. At least nine mutations in the PLEC gene can cause epidermolysis bullosa with pyloric atresia (EB-PA). At least one mutation in the PLEC gene is associated with the features of epidermolysis bullosa simplex, a condition that causes the skin to be very fragile and to blister easily. In addition to skin blistering, people with this disorder experience progressive muscle weakness and wasting (atrophy) later in life. More than 20 PLEC gene mutations have been found to cause this form of the disorder.

  • PKP2

    The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. More than 230 mutations in the PKP2 gene have been identified in people with arrhythmogenic right ventricular cardiomyopathy (ARVC).

  • PDLIM3

    The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy.

  • PCSK9

    The PCSK9 gene provides instructions for making a protein that helps regulate the amount of cholesterol in the bloodstream. The PCSK9 protein appears to control the number of low-density lipoprotein receptors, which are proteins on the surface of cells. These receptors play a critical role in regulating blood cholesterol levels. The receptors bind to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood. Low-density lipoprotein receptors are particularly abundant in the liver, the organ responsible for removing most excess cholesterol from the body. Researchers have identified several PCSK9 mutations that cause an inherited form of high cholesterol (hypercholesterolemia).

  • NRAS

    The NRAS gene provides instructions for making a protein called N-Ras that is involved primarily in regulating cell division. At least two mutations in the NRAS gene have been found to cause giant congenital melanocytic nevus. Somatic mutations in the NRAS gene are involved in the development of several types of cancer. NRAS is also found to be linked to Noonan syndrome, autoimmune lymphoproliferative syndrome,core binding acute myeloid leukemia, cytogenetically normal acute myeloid leukemia, epidermal nevus and lung cancer.

  • NPPA

    The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. NPPA is linked to ATFB6 and ATRST2. Atrial fibrillation, familial, 6 (ATFB6): A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial standstill 2 (ATRST2): A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria.

  • NOTCH1

    The NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand to the Notch1 receptor sends signals that are important for normal development of many tissues throughout the body, both before birth and after. Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).

    At least 15 mutations in the NOTCH1 gene have been found to cause Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. Mutations in the NOTCH1 gene have been found in about 15 percent of head and neck squamous cell carcinomas (HNSCC). Mutations in the NOTCH1 gene can impair normal heart development before birth, causing abnormalities of the heart and related structures.

  • NOS1AP

    This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This gene is related to Schizophrenia.

  • NKX2-5

    This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition.

  • NEXN

    This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC.

  • NEBL

    This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants

  • MYPN

    Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. Cardiomyopathy, dilated 1KK (CMD1KK), Cardiomyopathy, familial hypertrophic 22 (CMH22), Cardiomyopathy, familial restrictive 4 (RCM4) and Nemaline myopathy 11 (NEM11) are all related to MYPN.

  • MYOZ2

    The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder.

  • MYOM1

    The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified.

  • MYO6

    This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Deafness, autosomal recessive, 37 (DFNB37), Deafness and autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM) are related to MYO6.

  • MYLK2

    This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. MYLK2 is related to cardiomyopathy, familial hypertrophic (CMH): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum.

  • MYL3

    MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy.

  • MYL2

    Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy.

  • MYH7

    The MYH7 gene provides instructions for making a protein known as the beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. (Skeletal muscle are the muscles used for movement.) Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Mutations in the MYH7 gene are a common cause of familial hypertrophic cardiomyopathy, accounting for up to 35 percent of all cases. At least six mutations in the MYH7 gene have been found to cause Laing distal myopathy. At least 30 MYH7 gene mutations have been found to cause left ventricular noncompaction, which occurs when the lower left chamber of the heart (left ventricle) does not develop correctly. At least six mutations in the MYH7 gene are involved in myosin storage myopathy.

  • MYH6

    The MYH6 gene provides instructions for making a protein known as the cardiac alpha (α)-myosin heavy chain. This protein is found in heart (cardiac) muscle cells, where it forms part of a larger protein called type II myosin. Type II myosin helps generate the mechanical force that is needed for cardiac muscle to contract, allowing the heart to pump blood to the rest of the body. At least one variation of the MYH6 gene has been associated with an increased risk of developing sick sinus syndrome. Mutations in the MYH6 gene have been found to cause several additional heart conditions. These include congenital heart defects, particularly atrial-septal defect (ASD), which is a hole in the wall (septum) that separates the two upper chambers of the heart (the atria). MYH6 gene mutations can also cause two diseases of the cardiac muscle, dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).

  • MYH11

    The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. Smooth muscles are the muscles that line the internal organs of the body, including the blood vessels, stomach, and intestines; as part of their normal function in the body, these muscles contract and relax involuntarily. Rearrangements of genetic material involving the MYH11 gene are involved in a form of blood cancer known as acute myeloid leukemia (AML). Familial thoracic aortic aneurysm and dissection, intestinal pseudo-obstruction and megacystis-microcolon-intestinal hypoperistalsis syndrome are all related to MYH11.

  • MYBPC3

    The MYBPC3 gene provides instructions for making cardiac myosin binding protein C (cardiac MyBP-C), which is found in heart (cardiac) muscle cells. In these cells, cardiac MyBP-C is associated with a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. Regular contractions of cardiac muscle pump blood to the rest of the body. Mutations in the MYBPC3 gene are a common cause of familial hypertrophic cardiomyopathy, accounting for up to 30 percent of all cases. At least four mutations in the MYBPC3 gene have been found to cause left ventricular noncompaction, which occurs when the lower left chamber of the heart (left ventricle) does not develop correctly.

  • MURC

    This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization

  • MTTS2

    Found to be linked to juvenile myopathy, encephalopathy, lactic acidosis AND stroke,

  • MTTS1

    The MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. Mutations in the MT-TS1 gene have been found in a few people with variant forms of myoclonic epilepsy with ragged-red fibers (MERRF). Some of the MT-TS1 gene mutations responsible for hearing loss can cause additional signs and symptoms in affected individuals. In some families, mutations in the MT-TS1 gene cause health problems unrelated to hearing loss.

  • MTTQ

    MT-TQ (Mitochondrially Encoded TRNA Glutamine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TQ include Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes and Myopathy. Among its related pathways are tRNA Aminoacylation.

  • MTTM

    MT-TM (Mitochondrially Encoded TRNA Methionine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TM include Mitochondrial Myopathy and Mitochondrial Disorders. Among its related pathways are tRNA Aminoacylation

  • MTTL2

    MT-TL2 (Mitochondrially Encoded TRNA Leucine 2 (CUN)) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TL2 include Mitochondrial Myopathy and Mitochondrial Disorders. Among its related pathways are tRNA Aminoacylation.

  • MTTL1

    The MT-TK gene provides instructions for making a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA. A mutation in the MT-TK gene has been found in a small number of people with maternally inherited diabetes and deafness (MIDD), which is a condition characterized by diabetes and hearing loss, particularly of high tones. Several mutations in the MT-TK gene have been identified in people with myoclonic epilepsy with ragged-red fibers (MERRF). This condition is characterized by muscle twitches (myoclonus), recurrent seizures (epilepsy), abnormal muscle cells known as ragged-red fibers, and other problems with the nervous system. The A8344G mutation, which is the most common mutation found in people with MERRF (described above), can also cause a progressive brain disorder called Leigh syndrome.

  • MTTK

    The MT-TK gene provides instructions for making a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA. A mutation in the MT-TK gene has been found in a small number of people with maternally inherited diabetes and deafness (MIDD), which is a condition characterized by diabetes and hearing loss, particularly of high tones. Several mutations in the MT-TK gene have been identified in people with myoclonic epilepsy with ragged-red fibers (MERRF). This condition is characterized by muscle twitches (myoclonus),

  • MTTI

    MTTI gene is associated with myoclonus with epilepsy with ragged red fibers

  • MTTH

    The MT-TH gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. A small number of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) have a mutation in the MT-TH gene. As mentioned above, a few individuals with a mutation in the MT-TH gene have features of both myoclonic epilepsy with ragged-red fibers (MERRF) and MELAS. Another mutation in the MT-TH gene may increase the risk of developing a heart condition called cardiomyopathy. People with cardiomyopathy have a weakened heart muscle that is unable to pump blood effectively

  • MTTG

    MT-TG (Mitochondrially Encoded TRNA Glycine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TG include Endocervicitis and Cervix Disease. Among its related pathways are tRNA Aminoacylation.

  • MTTD

    MT-TD (Mitochondrially Encoded TRNA Aspartic Acid) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TD include Mitochondrial Disorders and Myasthenic Syndrome, Congenital, 10. Among its related pathways are tRNA Aminoacylation.

  • MTO1

    This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. MTO1 is found to be related to combined oxidative phosphorylation deficiency 10 (COXPD10): An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration.

  • MTND6

    The MT-ND6 gene provides instructions for making a protein called NADH dehydrogenase 6. Several mutations in the MT-ND6 gene have been identified in people with Leber hereditary optic neuropathy. A mutation in the MT-ND6 gene also has been identified in a small number of people with Leigh syndrome, a progressive brain disorder that typically appears in infancy or early childhood.

  • MTND5

    The MT-ND5 gene provides instructions for making a protein called NADH dehydrogenase 5. This protein is part of a large enzyme complex known as complex I, which is active in mitochondria. Mutations in the MT-ND5 gene are responsible for a small percentage of all cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

  • MTND1

    The MT-ND1 gene provides instructions for making a protein called NADH dehydrogenase 1. Several mutations in the MT-ND1 gene are known to cause Leber hereditary optic neuropathy. Each of these mutations changes a single DNA building block (nucleotide) in the gene. One common MT-ND1 mutation is responsible for about 13 percent of all cases of Leber hereditary optic neuropathy. MT-ND1 mutations are a rare cause of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). A mutation in the MT-ND1 gene has been reported in a few cases of adult-onset dystonia. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), tremors, and other uncontrolled movements.

  • MRPS22

    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. MRPS22 is linked to combined oxidative phosphorylation deficiency 5 (COXPD5): A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.

  • MRPL3

    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. MRPL3is linked to combined oxidative phosphorylation deficiency 9 (COXPD9): A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.

  • MIB1

    This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). MIB1 is associated with the left ventricular non-compaction 7 (LVNC7): A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function

  • MED12

    The MED12 gene provides instructions for making a protein called mediator complex subunit 12. As its name suggests, this protein forms one part (subunit) of the mediator complex, which is a group of about 25 proteins that work together to regulate gene activity. At least two mutations in the MED12 gene have been found to cause FG syndrome, which is characterized by intellectual disability, behavioral problems, and physical abnormalities including weak muscle tone (hypotonia) and obstruction of the anal opening (imperforate anus). There’s least one mutation in the MED12 gene causes Lujan syndrome, a disorder characterized by intellectual disability, behavioral problems, and physical features including tall stature and a long, narrow face. Three MED12 gene mutations have been found to cause the Maat-Kievit-Brunner type of Ohdo syndrome, which is a rare condition characterized by intellectual disability and distinctive facial features. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are known as somatic mutations, are not inherited. A particular variation (polymorphism) in the MED12 gene, known as the HOPA(12bp) polymorphism, has been associated with a modestly increased risk of schizophrenia in people of northern European ancestry.

  • Albumin

    An albumin blood test measures the amount of albumin in your blood. Albumin is a protein made by your liver. Albumin helps keep fluid in your bloodstream so it doesn't leak into other tissues. It is also carries various substances throughout your body, including hormones, vitamins, and enzymes. Low albumin levels can indicate a problem with your liver or kidneys.

    Clinical Significance: An albumin blood test is a type of liver function test. Liver function tests are blood tests that measure different enzymes and proteins in the liver, including albumin. An albumin test may also be part of a comprehensive metabolic panel, a test that measures several substances in your blood. These substances include electrolytes, glucose, and proteins such as albumin

    Collection Device: Serum Separator Tube (SST)

  • Atorvastatin

    Description: Atorvastatin (Lipitor) is a member of the drug class known as statins. It is used for lowering cholesterol. Atorvastatin is a competitive inhibitor of hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase, the rate-determining enzyme in cholesterol biosynthesis via the mevalonate pathway. HMG-CoA reductase catalyzes the conversion of HMG-CoA to mevalonate. Atorvastatin acts primarily in the liver. Decreased hepatic cholesterol levels increases hepatic uptake of cholesterol and reduces plasma cholesterol levels.

    Class: Cholesterol Lowering

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Lipitor

    Approx Detection Window: 4d

  • Alkaline Phosphatase

    An alkaline phosphatase (ALP) test measures the amount of ALP in your blood. ALP is an enzyme found throughout the body, but it is mostly found in the liver, bones, kidneys, and digestive system. When the liver is damaged, ALP may leak into the bloodstream. High levels of ALP can indicate liver disease or bone disorders.

    Clinical Significance: An alkaline phosphatase test is used to detect diseases of the liver or bones.

    Collection Device: Serum Separator Tube (SST)

  • ALT

    ALT, which stands for alanine transaminase, is an enzyme found mostly in the liver. When liver cells are damaged, they release ALT into the bloodstream. An ALT test measures the amount of ALT in the blood. High levels of ALT in the blood can indicate a liver problem, even before you have signs of liver disease, such as jaundice, a condition that causes your skin and eyes to turn yellow. An ALT blood test may be helpful in early detection of liver disease.

    Clinical Significance: An ALT blood test is a type of liver function test. Liver function tests may be part of a regular checkup. The test can also help diagnose liver problems.

    Collection Device: Serum Separator Tube (SST)

  • Amylase

    An amylase test measures the amount of amylase in your blood or urine. Amylase is an enzyme, or special protein, that helps you digest food. Most of your amylase is made in the pancreas and salivary glands. A small amount of amylase in your blood and urine is normal. A larger or smaller amount may mean that you have a disorder of the pancreas, an infection, alcoholism, or another medical condition.

    Clinical Significance: An amylase blood test is used to diagnose or monitor a problem with your pancreas, including pancreatitis, an inflammation of the pancreas. An amylase urine test may be ordered along with or after an amylase blood test. Urine amylase results can help diagnose pancreatic and salivary gland disorders. One or both types of tests may be used to help monitor amylase levels in people who are being treated for pancreatic or other disorders

    Collection Device: Serum Separator Tube (SST)

  • ANA

    The antinuclear antibody panel is a blood test that looks at antinuclear antibodies
    (ANA). ANA are substances produced by the immune system that attack the body's own tissues. The screening test determines whether such antibodies are present. The test also measures the level, called the titer, and the pattern, which can be helpful. If the test is positive, a panel of tests may be done to identify specific antigen targets. This is the ANA antibody panel.

    Clinical Significance:An ANA test is used to help diagnose autoimmune disorders, including:

    • ● Systemic lupus erythematosus (SLE). This is the most common type of lupus, a chronic disease affecting multiple parts of the body, including the joints, blood vessels, kidneys, and brain.
    • ● Rheumatoid arthritis, a condition that causes pain and swelling of the joints, mostly in the hands and feet
    • ● Scleroderma, a rare disease affecting the skin, joints, and blood vessels
    • ● Sjogren's syndrome, a rare disease affecting the body's moisture-making glands

    Collection Device: Serum Separator Tube (SST)

  • AST

    AST (aspartate aminotransferase) is an enzyme that is found mostly in the liver, but also in muscles. When your liver is damaged, it releases AST into your bloodstream. An AST blood test measures the amount of AST in your blood. The test can help your health care provider diagnose liver damage or disease.

    Clinical Significance: An AST blood test is often included in a routine blood screening. The test may also be used to help diagnose or monitor liver problems

    Collection Device: Serum Separator Tube (SST)

  • BUN

    A BUN, or blood urea nitrogen test, can provide important information about your kidney function. The main job of your kidneys is to remove waste and extra fluid from your body. If you have kidney disease, this waste material can build up in your blood and may lead to serious health problems, including high blood pressure, anemia, and heart disease.

    The test measures the amount of urea nitrogen in your blood. Urea nitrogen is one of the waste products removed from your blood by your kidneys. Higher than normal BUN levels may be a sign that your kidneys aren't working efficiently.

    People with early kidney disease may not have any symptoms. A BUN test can help uncover kidney problems at an early stage when treatment can be more effective.

    Clinical Significance :A BUN test is often part of a series of tests called a comprehensive metabolic panel, and can be used to help diagnose or monitor a kidney disease or disorder.

    Collection Device: Serum Separator Tube (SST)

    Beta- HCG: A qualitative HCG blood test checks if there is a hormone called human chorionic gonadotropin in your blood. HCG is a hormone produced in the body during pregnancy.

    Collection Device: Serum Separator Tube (SST)

  • C3 Complement

    Complement C3 is a blood test that measures the activity of a certain protein. This protein is part of the complement system. The complement system is a group of proteins that move freely through your bloodstream. The proteins work with your immune system and play a role in the development of inflammation.

    The complement system protects the body from infections, dead cells and from foreign material. Rarely, people may inherit deficiency of some complement proteins. These people are prone to certain infections or autoimmune disorders.

    Clinical Significance:This test may be used to determine whether deficiencies or abnormalities in complement system proteins are contributing to increased infections or increased autoimmune activity; to help monitor the activity and treatment of autoimmune diseases and immune complex-related diseases

    Collection Device: Serum Separator Tube (SST)

  • C4 Complement

    Complement component 4 is a blood test that measures the activity of a certain protein. This protein is part of the complement system. The complement system is a group of proteins that move freely through your bloodstream. The proteins work with your immune system and play a role in the development of inflammation.

    The complement system protects the body from infections, dead cells and from foreign material. Rarely, people may inherit deficiency of some complement proteins. These people are prone to certain infections or autoimmune disorders.

    Clinical Significance:This test may be used to determine whether deficiencies or abnormalities in complement system proteins are contributing to increased infections or increased autoimmune activity; to help monitor the activity and treatment of autoimmune diseases and immune complex-related diseases

    Collection Device: Serum Separator Tube (SST)

  • Calcium

    A calcium blood test measures the amount of calcium in your blood. Calcium is one of the most important minerals in your body. You need calcium for healthy bones and teeth. Calcium is also essential for proper functioning of your nerves, muscles, and heart. About 99% of your body's calcium is stored in your bones. The remaining 1% circulates in the blood. If there is too much or too little calcium in the blood, it may be a sign of bone disease, thyroid disease, kidney disease, or other medical conditions.

    Clinical Significance: Total calcium, which measures the calcium attached to specific proteins in your blood

    Collection Device: Serum Separator Tube (SST)

  • CBC

    A complete blood count (CBC) test measures the following:

    • ● The number of red blood cells (RBC count)
    • ● The number of white blood cells (WBC count)
    • ● The total amount of hemoglobin in the blood
    • ● The fraction of the blood composed of red blood cells (hematocrit)

    Clinical Significance: A complete blood count is a common blood test that's done for a variety of reasons:

    • ● To review your overall health. Your doctor may recommend a complete blood count as part of a routine medical examination to monitor your general health and to screen for a variety of disorders, such as anemia or leukemia.
    • ● To diagnose a medical condition. Your doctor may suggest a complete blood count if you're experiencing weakness, fatigue, fever, inflammation, bruising or bleeding. A complete blood count may help diagnose the cause of these signs and symptoms. If your doctor suspects you have an infection, the test can also help confirm that diagnosis.
    • ● To monitor a medical condition. If you've been diagnosed with a blood disorder that affects blood cell counts, your doctor may use complete blood counts to monitor your condition.
    • ● To monitor medical treatment. A complete blood count may be used to monitor your health if you're taking medications that may affect blood cell counts

    Collection Device: Ethylenediaminetetraacetic Acid Tube (EDTA)

  • CBC w/Diff

    A Complete Blood Count with Differential is one of the most commonly ordered tests for routine check-ups and physicals. A complete blood count with differential from HealthCheckUSA measures the levels of red blood cells, white blood cells, platelet levels, hemoglobin and hematocrit. Many times it is ordered as a screening test as an anemia check or detection of infections. The Complete Blood Count with Differential can be used to aid in diagnosing and treating a large number of other conditions.

    Clinical Significance: Screening tool to confirm a hematologic disorder, to establish or rule out a diagnosis, to detect an unsuspected hematologic disorder, or to monitor effects of radiation or chemotherapy

    Collection Device: Ethylenediaminetetraacetic Acid Tube (EDTA)

  • Ceruloplasmin

    Ceruloplasmin is a copper-containing enzyme that plays a role in the body's iron metabolism. This test measures the amount of ceruloplasmin in the blood.

    Copper is an essential mineral that plays a role in the regulation of iron metabolism, formation of connective tissue, energy production at the cellular level, and the function of the nervous system. It is absorbed from food and liquids by the intestines and then transported to the liver, where it is stored or used to produce a variety of enzymes.

    Clinical Significance: The liver binds copper to a protein to produce ceruloplasmin and then releases it into the bloodstream. About 95% of the copper in the blood is bound to ceruloplasmin. Because of this, the ceruloplasmin test can be used along with one or more copper tests to help diagnose Wilson disease, an inherited disorder that can lead to excess storage of copper in the liver, brain, and other organs.

    Collection Device: Serum Separator Tube (SST)

  • Chloride

    A chloride blood test measures the amount of chloride in your blood. Chloride is a type of electrolyte. Electrolytes are electrically charged minerals that help control the amount of fluids and the balance of acids and bases in your body. Chloride is often measured along with other electrolytes to diagnose or monitor conditions such as kidney disease, heart failure, liver disease, and high blood pressure.

    Clinical Significance: A chloride test is not normally given as an individual test. You usually get a chloride test as part of a routine blood screening or to help diagnose a condition related to an imbalance of acids or fluids in your body.

    Collection Device: Serum Separator Tube (SST)

  • CO2

    Carbon dioxide (CO2) is an odorless, colorless gas. It is a waste product made by your body. Your blood carries carbon dioxide to your lungs. You breathe out carbon dioxide and breathe in oxygen all day, every day, without thinking about it. A CO2 blood test measures the amount of carbon dioxide in your blood. Too much or too little carbon dioxide in the blood can indicate a health problem.

    Other names: carbon dioxide content, CO2 content, carbon dioxide blood test, bicarbonate blood test, bicarbonate test, total CO2; TCO2; carbon dioxide content; CO2 content; bicarb; HCO3

    Clinical Significance:A CO2 blood test is often part of a series of tests called an electrolyte panel. Electrolytes help balance the levels of acids and bases in your body. Most of the carbon dioxide in your body is in the form of bicarbonate, which is a type of electrolyte. An electrolyte panel may part of a regular exam. The test may also help monitor or diagnose conditions related to an electrolyte imbalance. These include kidney diseases, lung diseases, and high blood pressure.

    Collection Device: Serum Separator Tube (SST)

  • Clinical Significance

    A CO2 blood test is often part of a series of tests called an electrolyte panel. Electrolytes help balance the levels of acids and bases in your body. Most of the carbon dioxide in your body is in the form of bicarbonate, which is a type of electrolyte. An electrolyte panel may part of a regular exam. The test may also help monitor or diagnose conditions related to an electrolyte imbalance. These include kidney diseases, lung diseases, and high blood pressure.

    Collection Device: Serum Separator Tube (SST)

  • Cortisol, Total

    Cortisol is a hormone that affects almost every organ and tissue in your body. It plays an important role in helping you to:

    • ● Respond to stress
    • ● Fight infection
    • ● Regulate blood sugar
    • ● Maintain blood pressure
    • ● Regulate metabolism, the process of how your body uses food and energy

    Cortisol is made by your adrenal glands, two small glands located above the kidneys. A cortisol test measures the level of cortisol in your blood, urine, or saliva. Blood tests are the most common way of measuring cortisol. If your cortisol levels are too high or too low, it may mean you have a disorder of your adrenal glands. These disorders can be serious if not treated

    Clinical Significance: A cortisol test is used to help diagnose disorders of the adrenal gland. These include Cushing's syndrome, a condition that causes your body to make too much cortisol, and Addison disease, a condition in which your body doesn't make enough cortisol.

    Collection Device: Serum Separator Tube (SST)

  • Creatinine

    To evaluate the health of your kidneys; to help diagnose kidney disease; to monitor treatment for kidney disease

    Clinical Significance: Routinely as part of a comprehensive or basic metabolic panel; when your have signs and symptoms that may be due to kidney disease or damage or when you have a condition that may affect your kidneys and/or be worsened by kidney dysfunction; at intervals to monitor treatment for kidney disease or kidney function while on certain medications

    Collection Device: Serum Separator Tube (SST)

  • DHEA-S

    DHEA stands for dehydroepiandrosterone. This is a hormone found in the adrenal glands, above the kidneys. DHEA helps to make other hormones, like testosterone in men and estrogen in women. This blood test is often done for women who seem to have too many male hormones. It can also be done when a woman has a low sex drive and when a boy starts puberty too early.

    Clinical Significance: The DHEA-S test is done to check whether your adrenal glands are working well. It measures the amount of DHEA-S in your bloodstream.

    Collection Device: Serum Separator Tube (SST)

  • Direct Bilirubin

    A bilirubin blood test measures the levels of bilirubin in your blood. Bilirubin is a yellowish substance made during the body's normal process of breaking down red blood cells. Bilirubin is found in bile, a fluid in your liver that helps you digest food. If your liver is healthy, it will remove most of the bilirubin from your body. If your liver is damaged, bilirubin can leak out of your liver and into your blood. When too much bilirubin gets into the bloodstream, it can cause jaundice, a condition that causes your skin and eyes to turn yellow. Signs of jaundice, along with a bilirubin blood test, can help your health care provider find out if you have liver disease.

    Clinical Significance: A bilirubin blood test is used to check the health of your liver. The test is also commonly used to help diagnose newborn jaundice. Many healthy babies get jaundice because their livers aren't mature enough to get rid of enough bilirubin. Newborn jaundice is usually harmless and clears up within a few weeks. But in some cases, high bilirubin levels can lead to brain damage, so infants are often tested as a precaution.

    Collection Device: Serum Separator Tube (SST)

  • eGFR

    Estimated Glomerular Filtration Rate (eGFR) assess kidney function and diagnose, stage, and monitor chronic kidney disease (CKD).

    Clinical Significance: With a blood creatinine test as part of a routine health exam or when your healthcare practitioner thinks that you may have kidney damage or that you may be at risk for developing kidney disease

    Collection Device: Serum Separator Tube (SST)

  • Estradiol

    The test measures the amount of the hormone estradiol in the blood. Estradiol, a form of estrogen and in women, is mostly released from the ovaries and adrenal glands.

    This test is the most common way to measure levels of estrogen for non-pregnant women.

    Estradiol helps to control the way fat is distributed in the female body. It’s also essential for bone and joint health in females.

    Males also have estradiol in their bodies. Their levels of estradiol are lower than the levels in females. In males, the adrenal glands and testes make estradiol. Estradiol has been shown in vitro to prevent destruction of sperm cells, but its clinical importance in sexual function and development in men is likely less significant than in women.

    Clinical Significance: Your doctor may order an estradiol test if female or male sex characteristics aren’t developing at the normal rate.

    Collection Device: Serum Separator Tube (SST)

  • Estriol

    Estriol can be measured in maternal blood or urine and can be used as a marker of fetal health and well-being.

    Clinical Significance: The estriol blood test evaluates fetal distress and placental function in the management of patients facing complications such as fetal growth retardation, pre-eclampsia, Rh immunization, diabetes, choriocarcinoma and hydatidiform mole. May be elevated in hydrops fetalis in the presence of a dying fetus.

    Collection Device: Serum Separator Tube (SST)

  • hFSH

    Follicle-stimulating hormone (FSH) is an important part of the reproductive system. It’s responsible for the growth of ovarian follicles. Follicles produce estrogen and progesterone in the ovaries and help maintain the menstrual cycles in women. In men, FSH is a part of the development of the gonads as well as sperm production. The follicle stimulating hormone (FSH) blood test measures the level of FSH in blood. FSH is a hormone released by the pituitary gland, located on the underside of the brain.

    Clinical Significance: Your doctor will order an FSH test to find the underlying cause of symptoms affecting the reproductive system.

    Collection Device: Serum Separator Tube (SST)

  • Ferritin

    A ferritin blood test measures the level of ferritin in your blood. Ferritin is a protein that stores iron inside your cells. You need iron to make healthy red blood cells. Red blood cells carry oxygen from your lungs to the rest of your body. Iron is also important for healthy muscles, bone marrow, and organ function. Too little or too much iron in your system can cause serious health problems if not treated.

    Clinical Significance: A ferritin blood test is used to check your iron levels. It can help your health care provider find out if your body has the right amount of iron to stay healthy.

    Collection Device: Ethylenediaminetetraacetic Acid Tube (EDTA)

  • FSH

    Follicle-stimulating hormone (FSH) is a hormone associated with reproduction and the development of eggs in women and sperm in men. In women, FSH stimulates the growth and maturation of eggs (follicles) in the ovaries during the follicular phase of the menstrual cycle. In men, FSH stimulates the testicles to produce mature sperm and also promotes the production of androgen binding proteins. FSH levels are relatively constant in men after puberty.
    In infants and children, FSH levels rise shortly after birth and then fall to very low levels by 6 months in boys and 1-2 years in girls.

    Clinical Significance: A provider orders a FSH test To evaluate fertility issues, function of reproductive organs (ovaries or testicles), or pituitary function. In children, to evaluate early or delayed sexual maturation (puberty)

    Collection Device: Serum Separator Tube (SST)

  • RBC

    An RBC (red blood cell) antibody screen is a blood test that looks for antibodies that target red blood cells. Red blood cell antibodies may cause harm to you after a transfusion or, if you are pregnant, to your baby. An RBC antibody screen can find these antibodies before they cause health problems.

    Antibodies are proteins made by your body to attack foreign substances such as viruses and bacteria. Red blood cell antibodies may show up in your blood if you are exposed to red blood cells other than your own. This usually happens after a blood transfusion or during pregnancy, if a mother's blood comes in contact with her unborn baby's blood. Sometimes the immune system acts like these red blood cells are "foreign" and will attack them.

    Clinical Significance: RBC screen is used to:

    • ● Check your blood before a blood transfusion. The test can show whether your blood is compatible with the donor's blood. If your blood is not compatible, your immune system will attack the transfused blood as if it is a foreign substance. This will be harmful to your health.
    • ● Check your blood during pregnancy. The test can show whether a mother's blood is compatible with the blood of her unborn baby. A mother and her baby may have different types of antigens on their red blood cells. Antigens are substances that produce an immune response. Red blood cell antigens include the Kell antigen and the Rh antigen.
    • ○ If you have the Rh antigen, you are considered Rh positive. If you don't have the Rh antigen, you are considered Rh negative.
    • ○ If you are Rh negative and your unborn baby is Rh positive, your body may begin to make antibodies against your baby's blood. This condition is called Rh incompatibility.
    • ○ Both Kell antigens and Rh incompatibility may cause a mother to make antibodies against her baby's blood. The antibodies can destroy the baby's red blood cells, causing a severe form of anemia. But you can get a treatment that will prevent you from making antibodies that could harm your baby.

    Collection Device: Serum Separator Tube (SST)

    ● Check the blood of your unborn baby's father. ○ If you are Rh negative, your baby's father may be tested to find out his Rh type. If he is Rh positive, your baby will be at risk for Rh incompatibility. Your health care provider will probably perform more tests to find out whether or not there is incompatibility.
  • Folate

    A folic acid test measures the amount of folic acid in the blood. Folic acid is vitamin B-9, which is essential for the production of healthy red blood cells. These cells deliver oxygen to the entire body, so they’re vital for maintaining overall health. Folic acid is also important for the normal development of a fetus. It helps with cell and tissue growth as well as the creation of DNA, which carries genetic information.

    Clinical Significance: Testing the folate level, which is also known as folic acid and vitamin B9, is primarily used in the diagnosis of megaloblastic anemia.

    Collection Device: Serum Separator Tube (SST)

  • Free PSA

    The PSA test is a blood test used primarily to screen for prostate cancer. The test measures the amount of prostate-specific antigen (PSA) in your blood. The free-PSA test measures the percentage of unbound PSA. PSA is a protein produced by both cancerous and noncancerous tissue in the prostate, a small gland that sits below a man's bladder.

    Clinical Significance: The PSA test can detect high levels of PSA that may indicate the presence of prostate cancer. However, many other conditions, such as an enlarged or inflamed prostate, can also increase PSA levels. Therefore, determining what a high PSA score means can be complicated.

    Collection Device: Serum Separator Tube (SST)

  • Free T3

    Triiodothyronine (T3) is one of two major hormones produced by the thyroid gland, a small butterfly-shaped organ that lies flat across the windpipe at the base of the throat. Almost all of the T3 found in the blood is bound to protein. The rest is free (unbound) and is the biologically active form of the hormone.

    Clinical Significance: A free triiodothyronine test is used to assess thyroid function. It is ordered primarily to help diagnose hyperthyroidism and may be ordered to help monitor treatment of a person with a known thyroid disorder.

    Collection Device: Serum Separator Tube (SST)

  • Free T4

    Thyroxine (T4) is one of two major hormones produced by the thyroid gland, a small butterfly-shaped organ that lies flat across the windpipe at the base of the throat. The major thyroid hormone is called thyroxine (T4) and together they help control the rate at which the body uses energy. Free T4 (unbound) and is the biologically active form of the hormone

    Clinical Significance: Free T4 is used to help evaluate thyroid gland function; to help diagnose thyroid disease; to screen for hypothyroidism in newborns; to monitor effectiveness of treatment

    Collection Device: Serum Separator Tube (SST)

  • Free Testosterone

    Testosterone is the main sex hormone (androgen) in men. It is responsible for male physical characteristics. Although it is considered to be a "male" sex hormone, it is present in the blood of both men and women. Free testosterone measures only the testosterone that's not attached to proteins.


    Testosterone is mainly produced by special endocrine tissue (the Leydig cells) in the male testicles. It is also produced by the adrenal glands in both males and females and, in small amounts, by the ovaries in females.

    Clinical Significance: To detect an abnormal testosterone level in males and females; in males, to help diagnose the cause of erectile dysfunction or the inability of your partner to get pregnant (infertility); in females, to help diagnose the cause of masculine physical features (virilization), infertility, or polycystic ovary syndrome (PCOS); in children, to help determine the cause of genitals that are not clearly male or female (ambiguous genitalia) or delayed or early puberty

    Collection Device: Serum Separator Tube (SST)

  • Glucose

    A blood glucose test measures the glucose levels in your blood. Glucose is a type of sugar. It is your body's main source of energy. A hormone called insulin helps move glucose from your bloodstream into your cells. Too much or too little glucose in the blood can be a sign of a serious medical condition. High blood glucose levels (hyperglycemia) may be a sign of diabetes, a disorder that can cause heart disease, blindness, kidney failure and other complications. Low blood glucose levels (hypoglycemia) can also lead to major health problems, including brain damage, if not treated.

    Clinical Significance: A blood glucose test is used to find out if your blood sugar levels are in the healthy range. It is often used to help diagnose and monitor diabetes.

    Collection Device: Serum Separator Tube (SST)

  • HDL-Cholesterol

    High-density lipoprotein (HDL cholesterol, HDL-C) is one of the classes of lipoproteins that carry cholesterol in the blood. HDL-C consists primarily of protein with a small amount of cholesterol. It is considered to be beneficial because it removes excess cholesterol from tissues and carries it to the liver for disposal. Hence, HDL cholesterol is often termed "good" cholesterol. The test for HDL cholesterol measures the amount of HDL-C in blood.

    Clinical Significance: HDL-C may be ordered as part of a lipid profile during a health checkup. It is recommended that all adults with no risk factors for heart disease be tested every four to six years.

    Collection Device: Serum Separator Tube (SST)

  • Hemoglobin A1C

    A hemoglobin A1c (HbA1c) test measures the amount of blood sugar (glucose) attached to hemoglobin. Hemoglobin is the part of your red blood cells that carries oxygen from your lungs to the rest of your body. An HbA1c test shows what the average amount of glucose attached to hemoglobin has been over the past three months. It's a three-month average because that's typically how long a red blood cell lives.

    If your HbA1c levels are high, it may be a sign of diabetes, a chronic condition that can cause serious health problems, including heart disease, kidney disease, and nerve damage.

    Clinical Significance: An HbA1c test may be used to check for diabetes or prediabetes in adults. Prediabetes means your blood sugar levels show you are at risk for getting diabetes. If you already have diabetes, an HbA1c test can help monitor your condition and glucose levels.

    Collection Device: Ethylenediaminetetraacetic Acid Tube (EDTA)

  • hLH

    Luteinizing hormone (LH) is a hormone associated with reproduction and the stimulation of the release of an egg from the ovary (ovulation) in women and testosterone production in men. This test measures the amount of luteinizing hormone in the blood or urine.

    LH is produced by the pituitary gland, a grape-sized organ found at the base of the brain. Control of LH production is a complex system involving the hypothalamus in the brain, the pituitary gland, and the hormones produced by the ovaries and testicles.

    Clinical Significance: hLH is used to evaluate fertility issues, function of reproductive organs (ovaries or testicles), or to detect the release of an egg from the ovary (ovulation); to evaluate pituitary function. In children, to evaluate early or delayed sexual maturation (puberty).

    Collection Device: Serum Separator Tube (SST)

  • hTSH (fTSH)

    TSH stands for thyroid stimulating hormone. A TSH test is a blood test that measures this hormone. The thyroid is a small, butterfly-shaped gland located near your throat. Your thyroid makes hormones that regulate the way your body uses energy. It also plays an important role in regulating your weight, body temperature, muscle strength, and even your mood. TSH is made in a gland in the brain called the pituitary. When thyroid levels in your body are low, the pituitary gland makes more TSH. When thyroid levels are high, the pituitary gland makes less TSH. TSH levels that are too high or too low can indicate your thyroid isn't working correctly.

    Clinical Significance: A TSH test is used tos creen for and help diagnose thyroid disorders; to monitor treatment of hypothyroidism and hyperthyroidism

    Collection Device: Serum Separator Tube (SST)

  • Inorganic Phosphorus

    Phosphorus is a mineral that combines with other substances to form organic and inorganic phosphate compounds. The terms phosphorus and phosphate are often used interchangeably when talking about testing, but it is the amount of inorganic phosphate in the blood that is measured with a serum phosphorus/phosphate test.

    Phosphates are vital for energy production, muscle and nerve function, and bone growth. They also play an important role as a buffer, helping to maintain the body's acid-base balance.

    Phosphorus comes into the body through the diet. It is found in many foods and is readily absorbed by the intestines. About 70-80% of the body's phosphates combine with calcium to help form bones and teeth, another 10% are found in muscle, and about 1% is in nerve tissue. The rest is found within cells throughout the body, where they are mainly used to store energy.

    Clinical Significance: Inorganic Phosphorus is used to evaluate the level of phosphorus in your blood and to aid in the diagnosis of conditions known to cause abnormally high or low levels of phosphorus

    Collection Device: Serum Separator Tube (SST)

  • Intact PTH

    Parathyroid hormone (PTH) helps the body maintain stable levels of calcium in the blood. It is part of a feedback loop that includes calcium, PTH, vitamin D, and, to some extent, phosphorus (phosphate) and magnesium. Conditions and diseases that disrupt this feedback loop can cause inappropriate elevations or decreases in calcium and PTH levels and lead to symptoms of hypercalcemia or hypocalcemia. This test measures the amount of PTH in the blood.

    Clinical Significance: Intact PTH should be ordered to determine the cause of calcium imbalances; to evaluate parathyroid function; to diagnose and differentiate between primary, secondary, and tertiary hyperparathyroidism; to diagnose hypoparathyroidism; during surgery for hyperparathyroidism to confirm removal of the gland(s) causing the problem.

    Collection Device: Serum Separator Tube (SST)

  • Iron

    Iron is an essential nutrient that, among other functions, is required for the production of healthy red blood cells (RBCs). It is a critical part of hemoglobin, the protein in RBCs that binds oxygen in the lungs and releases it as blood circulates to other parts of the body. The serum iron test measures the amount of iron in the liquid portion of blood.

    Clinical Significance: This should be ordered along with other iron tests, to determine your blood iron level; along with other tests, to help diagnose iron-deficiency anemia or iron overload

    Collection Device: Serum Separator Tube (SST)

  • Lactate Dehydrogenase

    Lactate dehydrogenase (LD or LDH) is an enzyme involved in energy production that is found in almost all of the body's cells, with the highest levels found in the cells of the heart, liver, muscles, kidneys, lungs, and in blood cells; bacteria also produce LD. This test measures the level of LD in the blood or sometimes other body fluids.

    Blood LD
    Only a small amount of LD is usually detectable in the fluid portion of the blood (serum or plasma). LD is released from the cells into the serum when cells are damaged or destroyed. Thus, an LD blood level is a non-specific marker for the presence of tissue damage somewhere in the body. By itself, it cannot be used to identify the underlying cause or location of the cellular damage. However, it may be used, in conjunction with other blood tests, to help evaluate for and/or monitor conditions that lead to tissue damage, such as liver or blood diseases or cancer.

    Clinical Significance: This test is ordered to help detect a condition causing tissue damage, such as a blood or liver disease, and to monitor its progress; to help stage, determine prognosis, and/or response to treatment of certain cancers; to help evaluate body fluid (other than blood)

    Collection Device: Serum Separator Tube (SST)

  • LDL-Cholesterol

    Low-density lipoprotein (LDL cholesterol, LDL-C) is one type of lipoprotein that carries cholesterol in the blood. LDL-C consists mostly of cholesterol and similar substances with a small amount of protein. Most often, this test involves using a formula to calculate the amount of LDL-C in blood based on results of a lipid profile. Occasionally, LDL-C is measured directly.

    Clinical Significance: LDL-C determines your risk of developing heart disease; to monitor effectiveness of lipid-lowering therapy

    Collection Device: Serum Separator Tube (SST)

  • Lipase

    Lipase is a type of protein made by your pancreas, an organ located near your stomach. Lipase helps your body digest fats. It's normal to have a small amount of lipase in your blood. But, a high level of lipase can mean you have pancreatitis, an inflammation of the pancreas, or another type of pancreas disease. Blood tests are the most common way of measuring lipase.

    Clinical Significance: A lipase test may be used to:

    • ● Diagnose pancreatitis or another disease of the pancreas
    • ● Find out if there is a blockage in your pancreas
    • ● Check for chronic diseases that affect the pancreas, including cystic fibrosis

    Collection Device: Serum Separator Tube (SST)

  • High-Density Lipoprotein Cholesterol

    High-density lipoprotein (HDL cholesterol, HDL-C) is one of the classes of lipoproteins that carry cholesterol in the blood. HDL-C consists primarily of protein with a small amount of cholesterol. It is considered to be beneficial because it removes excess cholesterol from tissues and carries it to the liver for disposal. Hence, HDL cholesterol is often termed "good" cholesterol. The test for HDL cholesterol measures the amount of HDL-C in blood.

    Clinical Significance: HDL -C should be ordered to determine your risk of developing heart disease. High levels of cholesterol have been shown to be associated with the development of hardening of the arteries (atherosclerosis) and heart disease. When cholesterol levels in the blood increase (not enough is removed by HDL), it may be deposited on the walls of blood vessels. These deposits, termed plaques, can build up, causing vessel walls to become more rigid, and may eventually narrow the openings of blood vessels, constricting the flow of blood.

    Collection Device: Serum Separator Tube (SST)

  • Lithium

    Lithium is a drug used as an antipsychotic in the treatment of bipolar disorder. Occasionally, it can be used in other disorders to augment an antidepressant that does not adequately treat a depression.

    Clinical Significance: This test is ordered to measure lithium levels in the blood in order to determine the therapeutic level when just starting lithium medication; to maintain the therapeutic level or to determine lithium toxicity.

    Collection Device: Serum Separator Tube (SST):

  • Magnesium

    Magnesium is a mineral that is vital for energy production, muscle contraction, nerve function, and the maintenance of strong bones. It comes into the body through the diet and is absorbed by the small intestine and colon. Magnesium is stored in the bones, cells, and tissues. Normally, only about 1% of total body magnesium is present in the blood and this makes it difficult to get an accurate measurement of total magnesium content from blood tests alone. However, this test is still useful for evaluating a person's magnesium status.

    Clinical Significance: This test will be ordered to evaluate the level of magnesium in your blood and to help determine the cause of abnormal levels of magnesium, calcium and/or potassium

    Collection Device: Serum Separator Tube (SST)

  • Myoglobin

    Myoglobin is a small, oxygen-binding protein found in heart and skeletal muscles. It traps oxygen within muscle cells, allowing the cells to produce the energy required for muscular contraction. When heart or skeletal muscle is injured, myoglobin is released into the blood. Elevated levels can be measured within a few hours following an injury.

    Myoglobin is filtered from the blood by the kidneys and is released into the urine. Large quantities of myoglobin are toxic to the kidneys. If significant amounts of myoglobin are released into the bloodstream, which can happen after severe trauma or muscle injuries, the excess myoglobin may cause damage to the kidneys and eventually result in kidney failure. Measurement of myoglobin in urine helps to detect this condition.

    Clinical Significance: Myoglobin determines whether muscle has been injured; to help diagnose conditions associated with muscle damage; to detect high levels in the urine that can cause kidney damage after extensive muscle damage; sometimes to help determine if you have had a heart attack, although for heart attack detection, this test has been largely replaced by troponin.

    Collection Device: Serum Separator Tube (SST)

  • Potassium

    A potassium blood test measures the amount of potassium in your blood. Potassium is a type of electrolyte. Electrolytes are electrically charged minerals in your body that help control muscle and nerve activity, maintain fluid levels, and perform other important functions. Your body needs potassium to help your heart and muscles work properly. Potassium levels that are too high or too low may indicate a medical problem.

    Clinical Significance: A potassium blood test is often included in a series of routine blood tests called an electrolyte panel. The test may also be used to monitor or diagnose conditions related to abnormal potassium levels. These conditions include kidney disease, high blood pressure, and heart disease.

    Collection Device: Serum Separator Tube (SST)

  • Prealbumin

    A prealbumin blood test measures prealbumin levels in your blood. Prealbumin is a protein made in your liver. Prealbumin helps carry thyroid hormones and vitamin A through your bloodstream. It also helps regulate how your body uses energy.

    If your prealbumin levels are lower than normal, it may be a sign of malnutrition. Malnutrition is a condition where your body does not get the calories, vitamins, and/or minerals needed for good health.

    Clinical Significance: A prealbumin test may be used to:

    • ● Find out if you are getting enough nutrients, especially protein, in your diet
    • ● Check to see if you are getting enough nutrition if you are in the hospital. Nutrition plays an important role in recovery and healing.
    • ● Help diagnose certain infections and chronic diseases

    Collection Device: Serum Separator Tube (SST)

  • Progesterone

    Progesterone is a steroid hormone whose main role is to help prepare a woman's body for pregnancy. It works in conjunction with several other female hormones. This test measures the level of progesterone in the blood.

    Clinical Significance: Progesterone is ordered to help determine the cause of infertility, track ovulation, help diagnose an ectopic or failing pregnancy, monitor the health of a pregnancy, monitor progesterone replacement therapy, or help diagnose the cause of abnormal uterine bleeding.

    Collection Device: Serum Separator Tube (SST)

  • Prolactin

    Prolactin is a hormone produced by the anterior portion of the pituitary gland, a grape-sized organ found at the base of the brain. Prolactin secretion is regulated and inhibited by the brain chemical dopamine. The prolactin level is usually high throughout pregnancy and just after childbirth. During pregnancy, the hormones prolactin, estrogen, and progesterone stimulate breast milk development. Following childbirth, prolactin helps initiate and maintain the breast milk supply. If a woman does not breastfeed, her prolactin level soon drops back to pre-pregnancy levels. If she does nurse, suckling by the infant plays an important role in the release of prolactin. There is a feedback mechanism between how often the baby nurses and the amount of prolactin secreted by the pituitary as well as the amount of milk produced.

    Clinical Significance: Prolactin is order to help investigate unexplained flow of breast milk (galactorrhea), abnormal nipple discharge, absence of menstrual periods, and/or infertility in women; in men, to help diagnose the cause of decreased libido and/or erectile dysfunction; to detect and monitor a prolactin-producing pituitary tumor (prolactinoma).

    Collection Device: Serum Separator Tube (SST)

  • Rh Factor

    Rhesus (Rh) factor is an inherited protein found on the surface of red blood cells. If your blood has the protein, you're Rh positive. If your blood lacks the protein, you're Rh negative.

    Clinical Significance: Your health care provider will recommend a blood type and Rh factor screening test during your first prenatal visit. This will identify whether your blood cells carry the Rh factor protein.

    Collection Device: Serum Separator Tube (SST)

  • SHBG

    Sex hormone binding globulin (SHBG) is a protein that is produced by the liver and binds tightly to the hormones testosterone, dihydrotestosterone (DHT), and estradiol (an estrogen). In this bound state, SHBG transports these hormones in the blood as biologically inactive forms. This test measures the level of SHBG in the blood and is most often used to help evaluate for testosterone deficiency or excess.

    Clinical Significance: SHBG most commonly measures in the evaluation of low testosterone (androgen deficiency) in men; also commonly used in the evaluation of women with signs and symptoms of excess male hormones (androgens).

    Collection Device: Serum Separator Tube (SST)

  • Sodium

    A sodium blood test measures the amount of sodium in your blood. Sodium is a type of electrolyte. Electrolytes are electrically charged minerals that help maintain fluid levels and the balance of chemicals in your body called acids and bases. Sodium also helps your nerves and muscles work properly.

    You get most of the sodium you need in your diet. Once your body takes in enough sodium, the kidneys get rid of the rest in your urine. If your sodium blood levels are too high or too low, it may mean that you have a problem with your kidneys, dehydration, or another medical condition.

    Clinical Significance: A sodium blood test may be part of a test called an electrolyte panel. An electrolyte panel is a blood test that measures sodium, along with other electrolytes, including potassium, chloride, and bicarbonate.

    Collection Device: Serum Separator Tube (SST)

  • Thyroglobulin

    Thyroglobulin (Tg) is a protein produced by the thyroid gland. This test measures the amount of thyroglobulin in the blood.Thyroglobulin is produced all healthy individuals, and normally its concentration in blood is very low. Thyroglobulin concentration increases in both benign (Graves disease, subacute thyroiditis, Hashimoto thyroiditis) and malignant conditions (thyroid adenoma, thyroid papillary and follicular cancer). Therefore, it is on one hand a non-specific indicator of a thyroid dysfunction and, on the other hand, a tumor marker that can be used to monitor patients with thyroid papillary and follicular cancer after diagnosis (see Thyroid Cancer).

    Clinical Significance: Thyroglobulin is used to monitor treatment of thyroid cancer and to detect recurrence; less commonly, to help determine the cause of hyperthyroidism and hypothyroidism.

    Collection Device: Serum Separator Tube (SST)

  • Total Bilirubin

    Bilirubin is an orange-yellow pigment, a waste product primarily produced by the normal breakdown of heme. Heme is a component of hemoglobin, which is found in red blood cells (RBCs). Bilirubin is ultimately processed by the liver to allow its elimination from the body. This test measures the amount of bilirubin in the blood to evaluate a person's liver function or to help diagnose anemias caused by RBC destruction (hemolytic anemia). Total bilirubin (direct and indirect) range from about 0.2 to 1.2 mg/dL (some lab values range as high as 1.9 mg/dL). Medical literature sources have minor variations in "normal" levels).

    Clinical Significance: Total Bilirubin is used to screen for or monitor liver disorders or hemolytic anemia; to monitor neonatal jaundice

    Collection Device: Serum Separator Tube (SST)

  • Total Cholesterol

    Cholesterol is a substance (a steroid) that is essential for life. It forms the membranes for cells in all organs and tissues in the body. It is used to make hormones that are essential for development, growth, and reproduction. It forms bile acids that are needed to absorb nutrients from food. The test for cholesterol measures total cholesterol that is carried in the blood by lipoproteins. Total cholesterol is the combined amount of low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol in your blood.

    Clinical Significance: Total Cholesterol should be ordered to screen for risk of developing heart disease; to monitor effectiveness of lipid-lowering therapy.

    Collection Device: Serum Separator Tube (SST)

  • Total DHEA-S

    Dehydroepiandrosterone sulfate (DHEAS) is a male sex hormone (androgen) that is present in both men and women. This test measures the level of DHEAS in the blood.

    DHEAS:

    • ● Plays a role in developing male secondary sexual characteristics at puberty
    • ● Can be converted by the body into more potent androgens, such as testosterone and androstenedione
    • ● Can be converted into the female hormone estrogen

    DHEAS is produced almost exclusively by the adrenal glands, with smaller amounts being produced by a woman's ovaries and a man's testicles. It is useful as a marker for adrenal gland function. Adrenal tumors (cancerous and non-cancerous) and adrenal hyperplasia can lead to the overproduction of DHEAS. Rarely, an ovarian tumor may produce DHEAS.

    Clinical Significance: Should be ordered to help evaluate adrenal gland function; to detect adrenal tumors or cancers; to help determine the cause of masculine physical characteristics (virilization) in girls and women or early puberty in boys.

    Collection Device: Serum Separator Tube (SST)

  • Total Protein

    Albumin and globulin are two types of protein in your body. The total protein test measures the total amount albumin and globulin in your body. It’s used as part of your routine health checkup. It may also be used if you have unexpected weight loss, fatigue, or the symptoms of a kidney or liver disease.

    Clinical Significance: A total protein test is completed as part of your routine health checkup. It’s one of the tests that make up your comprehensive medical panel (CMP). It may be ordered if you have:

    • ● unexplained weight loss
    • ● Fatigue
    • ● edema, which is swelling caused by extra fluid in your tissues
    • ● symptoms of kidney or liver disease
    • ● The total protein test measures the total amount of protein in your blood and specifically looks for the amount of albumin and globulin.

      This test will also look at the ratio of albumin to globulin in your blood. This is known as the “A/G ratio.”

    Collection Device:: Serum Separator Tube (SST)

  • Total PSA

    The PSA test is a blood test used primarily to screen for prostate cancer. The test measures the amount of prostate-specific antigen (PSA) in your blood. The total-PSA test measures the total of both free and bound PSA. PSA is a protein produced by both cancerous and noncancerous tissue in the prostate, a small gland that sits below a man's bladder.

    Clinical Significance: The PSA test can detect high levels of PSA that may indicate the presence of prostate cancer. However, many other conditions, such as an enlarged or inflamed prostate, can also increase PSA levels. Therefore, determining what a high PSA score means can be complicated.

    Collection Device: Serum Separator Tube (SST)

  • Total T3

    Triiodothyronine (T3) is one of two major hormones produced by the thyroid gland, a small butterfly-shaped organ that lies flat across the windpipe at the base of the throat. Almost all of the T3 found in the blood is bound to protein. The total T3 is bound plus unbound in the blood.

    Clinical Significance: Total triiodothyronine test is used to assess thyroid function. It is ordered primarily to help diagnose hyperthyroidism and may be ordered to help monitor treatment of a person with a known thyroid disorder.

    Collection Device: Serum Separator Tube (SST)

  • Total T4

    Thyroxine (T4) is one of two major hormones produced by the thyroid gland, a small butterfly-shaped organ that lies flat across the windpipe at the base of the throat. The major thyroid hormone is called thyroxine (T4) and together they help control the rate at which the body uses energy. Total T4 bound plus unbound in the blood.

    Clinical Significance: Total T4 is used to help evaluate thyroid gland function; to help diagnose thyroid disease; to screen for hypothyroidism in newborns; to monitor effectiveness of treatment

    Collection Device: Serum Separator Tube (SST)

  • Total Testosterone

    Testosterone is the main sex hormone in males. During a boy's puberty, testosterone causes the growth of body hair, muscle development, and deepening of the voice. In adult men, it controls sex drive, maintains muscle mass, and helps make sperm. Women also have testosterone in their bodies, but in much smaller amounts.

    This test measures the levels of testosterone in your blood. Most of the testosterone in the blood is attached to proteins. Testosterone that is not attached to a protein is called free testosterone.

    Clinical Significance: A testosterone levels test may be used to diagnose several conditions, including:

    • ● Decreased sex drive in men and women
    • ● Infertility in men and women
    • ● Erectile dysfunction in men
    • ● Tumors of testicles in men
    • ● Early or delayed puberty in boys
    • ● Excess body hair growth and development of masculine features in women
    • ● Irregular menstrual periods in women

    Collection Device: Serum Separator Tube (SST)

  • TPOAb

    Thyroid peroxidase (TPO) is an enzyme made in the thyroid gland that is important in the production of thyroid hormone. TPO is found in thyroid follicle cells where it converts the thyroid hormone T4 to T3. Thyroid peroxidase test is a test that measures the level of an antibody that is directed against thyroid peroxidase (TPO).

    Thyroid autoantibodies are antibodies that develop when a person's immune system mistakenly targets components of the thyroid gland or thyroid proteins, leading to chronic inflammation of the thyroid (thyroiditis), tissue damage, and/or disruption of thyroid function. Laboratory tests detect the presence and measure the quantity of specific thyroid autoantibodies in the blood. Autoantibodies to thyroid peroxidase (TPOAb) are produced within the body. The presence of TPOAb in the blood reflects a prior attack on the thyroid tissue by the body's immune system.

    Clinical Significance: TPOAb are ordered to help diagnose and monitor autoimmune thyroid diseases and to distinguish these from other forms of thyroid disease; to help guide treatment decisions

    Collection Device: Serum Separator Tube (SST)

  • Transferrin

    Transferrin is the main protein in the blood that binds to iron and transports it throughout the body. A transferrin test directly measures the level in the blood. Alternatively, transferrin may be measured indirectly (or converted by calculation) so that its level is expressed as the amount of iron it is capable of binding. This is called the total iron binding capacity (TIBC).

    Clinical Significance: Transferrin test—directly measures the level of transferrin in the blood. The level depends upon liver function and a person's nutritional.

    Collection Device: Serum Separator Tube (SST)

  • Triglycerides

    A triglycerides test measures the amount of triglycerides in your blood. Triglycerides are a type of fat in your body. If you eat more calories than you need, the extra calories are changed into triglycerides. These triglycerides are stored in your fat cells for later use. When your body needs energy, triglycerides are released into your bloodstream to provide fuel for your muscles to work. If you eat more calories than you burn off, especially calories from carbohydrates and fats, you may get high triglyceride levels in your blood. High triglycerides may put you at greater risk for a heart attack or stroke.

    Clinical Significance: A triglycerides test is usually part of a lipid profile. Lipid is another word for fat. A lipid profile is a test that measures the level of fats in your blood, including triglycerides and cholesterol, a waxy, fatty substance found in every cell of your body. If you have high levels of both LDL (bad) cholesterol and triglycerides, you may be at an increased risk for a heart attack or stroke.

    Your health care provider may order a lipid profile as part of a routine exam or to diagnose or monitor heart conditions.

    Collection Device: Serum Separator Tube (SST)

  • UIBC

    Iron binding capacity measurements are used in the diagnosis and treatment of anaemias. Serum iron is carried by binding to the transport protein, Transferrin. The measurement of the maximum concentration of iron that Transferrin can bind is called the Total Iron Binding Capacity (TIBC). Normally, only about one third of the iron binding sites of Transferrin are occupied by Fe (III); therefore, serum has considerable reserve iron binding capacity. This is called the serum Unsaturated Iron Binding Capacity (UIBC). Total Iron Binding Capacity equals the Unsaturated Iron Binding Capacity plus serum iron: TIBC = UIBC + Serum Iron.

    Transferrin saturation and UIBC have equal reliability in ability to predict hemochromatosis.. Unsaturated iron binding capacity (UIBC) is an inexpensive alternative to transferrin saturation for detection of hereditary hemochromatosis.


    Clinical Significance: Unsaturated iron-binding capacity (UIBC) test may be used along with other iron tests to assess the amount of iron circulating in the blood, the total capacity of the blood to transport iron, and the amount of stored iron in the body. Testing may also help differentiate various causes of anemia.

    Collection Device: Serum Separator Tube (SST)

  • Vitamin B12

    Vitamin B12 (cobalamin) is necessary for hematopoiesis and normal neuronal function. In humans, it is obtained only from animal proteins and requires intrinsic factor (IF) for absorption. The body uses its vitamin B12 stores very economically, reabsorbing vitamin B12 from the ileum and returning it to the liver; very little is excreted.

    Clinical Significance: Your doctor may recommend you have one for a few different reasons, such as:

    • ● You’ve been diagnosed with anemia.
    • ● He suspects you have a medical condition that affects how well your body absorbs B12.
    • ● You’re taking medications that may interfere with B12 absorption.
    • ● You have symptoms linked to low B12 levels.

    Collection Device: Serum Separator Tube (SST)

  • Vitamin D

    Vitamin D is a nutrient that is essential for healthy bones and teeth. There are two forms of vitamin D that are important for nutrition: vitamin D2 and vitamin D3. Vitamin D2 mainly comes from fortified foods like breakfast cereals, milk, and other dairy items. Vitamin D3 is made by your own body when you are exposed to sunlight. It is also found in some foods, including eggs and fatty fish, such as salmon, tuna, and mackerel.

    Clinical Significance: A vitamin D test is used to screen for or monitor bone disorders. It is also sometimes used to check vitamin D levels in people with chronic illnesses such as asthma, psoriasis, and certain autoimmune diseases.

    Collection Device: Serum Separator Tube (SST)

  • yGlutamyltransferase

    Gamma-glutamyl transferase (GGT) is an enzyme that is found in many organs throughout the body, with the highest concentrations found in the liver. GGT is elevated in the blood in most diseases that cause damage to the liver or bile ducts.

    Clinical Significance: yGlutamyltransferase evaluate for a possible liver disease or bile duct disease or to differentiate between liver and bone disease as a cause of elevated alkaline phosphatase (ALP); sometimes to screen for or monitor alcohol abuse

    Collection Device: Serum Separator Tube (SST)

  • Simvastatin

    Description: Simvastatin is a lipid-lowering agent that is derived synthetically from the fermentation of Aspergillus terreus. It is a potent competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase (hydroxymethylglutaryl COA reductases), which is the rate-limiting enzyme in cholesterol biosynthesis. It may also interfere with steroid hormone production. Due to the induction of hepatic LDL receptors, it increases breakdown of LDL cholesterol.

    Class: Cholesterol Lowering

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Zocor

    Approx Detection Window: 1d

  • Rosuvastatin

    Description: Rosuvastatin is an antilipemic agent that competitively inhibits hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase. HMG-CoA reducuase catalyzes the conversion of HMG-CoA to mevalonic acid, the rate-limiting step in cholesterol biosynthesis. Rosuvastatin belongs to a class of medications called statins and is used to reduce plasma cholesterol levels and prevent cardiovascular disease.

    Class: Cholesterol Lowering

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Crestor

    Approx Detection Window: 4d

  • Ezetimibe

    Description: Ezetimibe is a lipid-lowering compound that inhibits intestinal cholesterol and related phytosterol absorption. The discovery and research of this drug began in the early 1990's, where intravenous administration of radio-labelled compound in rats resulting in subsequent localization of the drug within enterocytes at the intestinal villus, leading to studies of investigating the effect of ezetimibe on intestinal cholesterol absorption. Ezetimibe is used as an adjunctive therapy to diet to lower cholesterol levels in primary hyperlipidemia, mixed hyperlipidemia, homozygous familial hypercholesterolemia (HoFH), and homozygous sitosterolemia (phytosterolemia).

    Unlike other classes of cholesterol-reducing compounds including statins and bile acid sequestrants, ezetimibe has a distinct mechanism of action involving the sterol transporter Niemann-Pick C1-Like 1 (NPC1L1), and is the first drug that does not affect absorption of fat-soluble nutrients such as fat-soluble vitamins, triglycerides, or bile acids]. In genetically NPC1L1-deficient mice, a 70% reduction in intestinal cholesterol absorption was seen and the mice were insensitive to ezetimibe treatment. Based on these findings, it is indicated that NPC1L1 plays an essential role in promoting intestinal cholesterol uptake via an ezetimibe-sensitive pathway. By interfering with the intestinal uptake of cholesterol and phytosterols, ezetimibe reduces the delivery of intestinal cholesterol to the liver.

    Class: Cholesterol Lowering

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Zetia

    Approx Detection Window: 3d

  • Clonidine

    Description: Clonidine, an imidazoline-derivative hypotensive agent is a centrally-acting α2-adrenergic agonist. It crosses the blood-brain barrier and acts in the hypothalamus to induce a decrease in blood pressure. It may also be administered as an epidural infusion as an adjunct treatment in the management of severe cancer pain that is not relieved by opiate analgesics alone. Clonidine may be used for differential diagnosis of pheochromocytoma in hypertensive patients. Other uses for clonidine include prophylaxis of vascular migraine headaches, treatment of severe dysmenorrhea, management of vasomotor symptoms associated with menopause, rapid detoxification in the management of opiate withdrawal, treatment of alcohol withdrawal used in conjunction with benzodiazepines, management of nicotine dependence, topical use to reduce intraocular pressure in the treatment of open-angle and secondary glaucoma and hemorrhagic glaucoma associated with hypertension, and in the treatment of attention-deficit hyperactivity disorder (ADHD). Clonidine also exhibits some peripheral activity.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 50

    Trade name/Street name: Catapres

    Approx Detection Window: 6d

  • Enalapril

    Description: Enalapril is a prodrug that belongs to the angiotensin-converting enzyme (ACE) inhibitor class of medications. It is rapidly metabolized in the liver to enalaprilat following oral administration. Enalaprilat is a potent, competitive inhibitor of ACE, the enzyme responsible for the conversion of angiotensin I (ATI) to angiotensin II (ATII). ATII regulates blood pressure and is a key component of the renin-angiotensin-aldosterone system (RAAS). Enalapril may be used to treat essential or renovascular hypertension and symptomatic congestive heart failure.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Vasotec

    Approx Detection Window: 1d

  • Enalaprilat

    Enalaprilat is the active metabolite of the orally available pro-drug, enalapril. Used in the treatment of hypertension, enalapril is an ACE inhibitor that prevents Angiotensin Converting Enzyme (ACE) from transforming angiotensin I into angiotensin II. As angiotensin II is responsible for vasoconstriction and sodium reabsorption in the proximal tubule of the kidney, down-regulation of this protein results in reduced blood pressure and blood fluid volume. Enalaprilat was originally created to overcome the limitations of the first ACE inhibitor, captopril, which had numerous side effects and left a metallic taste in the mouth. Removal of the problematic thiol group from captopril resulted in enalaprilat, which was then modified further with an ester to create the orally available pro-drug enalapril.

    Enalaprilat is poorly orally available and is therefore only available as an intravenous injection for the treatment of hypertension when oral therapy is not possible.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: (Enalapril metabolite)

    Approx Detection Window: 1d

  • Lisinopril

    Description: Lisinopril is a potent, competitive inhibitor of angiotensin-converting enzyme (ACE), the enzyme responsible for the conversion of angiotensin I (ATI) to angiotensin II (ATII). ATII regulates blood pressure and is a key component of the renin-angiotensin-aldosterone system (RAAS). Lisinopril may be used to treat hypertension and symptomatic congestive heart failure, to improve survival in certain individuals following myocardial infarction, and to prevent progression of renal disease in hypertensive patients with diabetes mellitus and microalbuminuria or overt nephropathy.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Prinivil, Zestril

    Approx Detection Window: 3d

  • Quinapril

    Description: Quinapril is a prodrug that belongs to the angiotensin-converting enzyme (ACE) inhibitor class of medications. It is metabolized to quinaprilat (quinapril diacid) following oral administration. Quinaprilat is a competitive inhibitor of ACE, the enzyme responsible for the conversion of angiotensin I (ATI) to angiotensin II (ATII). ATII regulates blood pressure and is a key component of the renin-angiotensin-aldosterone system (RAAS). Quinapril may be used to treat essential hypertension and congestive heart failure.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name:

    Approx Detection Window: 1d

  • Quinaprilat

    Description: The active metabolite of the prodrug Quinapril.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: (Quinapril metabolite)

    Approx Detection Window: 1d

  • Verapamil

    Description: A calcium channel blocker that is a class IV anti-arrhythmia agent.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Covera-HS, Calan

    Approx Detection Window: 5d

  • Amlodipine

    Description: Amlodipine is a long-acting 1,4-dihydropyridine calcium channel blocker. It acts primarily on vascular smooth muscle cells by stabilizing voltage-gated L-type calcium channels in their inactive conformation. By inhibiting the influx of calcium in smooth muscle cells, amlodipine prevents calcium-dependent myocyte contraction and vasoconstriction. A second proposed mechanism for the drug’s vasodilatory effects involves pH-dependent inhibition of calcium influx via inhibition of smooth muscle carbonic anhydrase. Some studies have shown that amlodipine also exerts inhibitory effects on voltage-gated N-type calcium channels. N-type calcium channels located in the central nervous system may be involved in nociceptive signaling and pain sensation. Amlodipine is used to treat hypertension and chronic stable angina.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Norvasc, Lotrel

    Approx Detection Window: 21d

  • Losartan

    Description: Losartan is an angiotensin-receptor blocker (ARB) that may be used alone or with other agents to treat hypertension. Losartan and its longer acting metabolite, E-3174, lower blood pressure by antagonizing the renin-angiotensin-aldosterone system (RAAS); they compete with angiotensin II for binding to the type-1 angiotensin II receptor (AT1) subtype and prevents the blood pressure increasing effects of angiotensin II. Unlike angiotensin-converting enzyme (ACE) inhibitors, ARBs do not have the adverse effect of dry cough. Losartan may be used to treat hypertension, isolated systolic hypertension, left ventricular hypertrophy and diabetic nephropathy. It may also be used as an alternative agent for the treatment of systolic dysfunction, myocardial infarction, coronary artery disease, and heart failure.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Cozaar

    Approx Detection Window: 1d

  • Butalbital

    Butalbital, 5-allyl-5-isobutylbarbituric acid, is a barbiturate with an intermediate duration of action. It has the same chemical formula as talbutal but a different structure. Butalbital is often combined with other medications, such as acetaminophen or aspirin, and is commonly prescribed for the treatment of pain and headache.

    Class: Barbiturates

    Category: Psychiatric

    Cutoff: 400

    Trade name/Street name: Fioricet, Orbivan

    Approx Detection Window: 7d

  • Losartan COOH

    Description: The active metabolite of the prodrug Losartan.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: (Lorsartan metabolite)

    Approx Detection Window: 2d

  • Secobarbital

    Description: Secobarbital (marketed by Eli Lilly and Company under the brand names Seconal® and Tuinal) is a barbiturate derivative drug. It possesses anaesthetic, anticonvulsant, sedative and hypnotic properties. In the United Kingdom, it was known as Quinalbarbitone.

    Class: Barbiturates

    Category: Psychiatric

    Cutoff: 400

    Trade name/Street name:Seconal

    Approx Detection Window: 3d

  • Phenobarbital

    Description: A barbituric acid derivative that acts as a nonselective central nervous system depressant. It promotes binding to inhibitory gamma-aminobutyric acid subtype receptors, and modulates chloride currents through receptor channels. It also inhibits glutamate induced depolarizations.

    Class: Barbiturates

    Category: Psychiatric

    Cutoff: 400

    Trade name/Street name: Luminal, Solfoton

    Approx Detection Window: 15d

  • Alprazolam

    Description: A triazolobenzodiazepine compound with antianxiety and sedative-hypnotic actions, that is efficacious in the treatment of panic disorders, with or without agoraphobia, and in generalized anxiety disorders.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Xanax

    Approx Detection Window: 5d

  • 4-Hydroxyalprazolam

    Description: The active metabolite of the prodrug Alprazolam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: (Alprazolam metabolite)

    Approx Detection Window: 7d

  • Clonazepam

    Description: An anticonvulsant used for several types of seizures, including myotonic or atonic seizures, photosensitive epilepsy, and absence seizures, although tolerance may develop. It is seldom effective in generalized tonic-clonic or partial seizures. The mechanism of action appears to involve the enhancement of gamma-aminobutyric acid receptor responses.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Klonopin

    Approx Detection Window: 5d

  • Flunitrazepam

    Description: A benzodiazepine with pharmacologic actions similar to those of diazepam that can cause anterograde amnesia. Some reports indicate that it is used as a date rape drug and suggest that it may precipitate violent behavior. The United States Government has banned the importation of this drug.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Rohypnol

    Approx Detection Window: 5d

  • 7-Aminoclonazepam

    The active metabolite of the prodrug Clonazepaml.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: (Clonazepam metabolite)

    Approx Detection Window: 5d

  • Flurazepam

    Description: A benzodiazepine derivative used mainly as a hypnotic.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Dalmane

    Approx Detection Window: 2d

  • Desalkylflurazepam

    Description: The active metabolite of the prodrug Flurazepam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: (Flurazepam metabolite)

    Approx Detection Window: 2d

  • 2-Hydroxyethylflurazepam

    Description: The active metabolite of the prodrug Flurazepam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: (Flurazepam metabolite)

    Approx Detection Window: 2d

  • Midazolam

    Description: A short-acting hypnotic-sedative drug with anxiolytic and amnestic properties. It is used in dentistry, cardiac surgery, endoscopic procedures, as preanesthetic medication, and as an adjunct to local anesthesia. The short duration and cardiorespiratory stability makes it useful in poor-risk, elderly, and cardiac patients. It is water-soluble at pH less than 4 and lipid-soluble at physiological pH. Midazolam is a schedule IV drug in the United States.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Versed

    Approx Detection Window: 2d

  • Alpha-Hydroxymidazolam

    Description: The active metabolite of the prodrug Midazolam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name:(Midazolam metabolite)

    Approx Detection Window: 2d

  • Triazolam

    Description: Withdrawn in the United Kingdom due to risk of psychiatric adverse drug reactions. This drug continues to be available in the U.S. Internationally, triazolam is a Schedule IV drug under the Convention on Psychotropic Substances.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Halcion

    Approx Detection Window: 2d

  • Alpha-Hydroxytriazolam

    Description: The active metabolite of the prodrug Triazolam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name:(Triazolam metabolite)

    Approx Detection Window: 2d

  • 4-Hydroxydiclofenac

    Description: A non-steroidal anti-inflammatory agent (NSAID) with antipyretic and analgesic actions. It is primarily available as the sodium salt.

    Class: NSAID’s

    Category: Pain/Neurology

    Cutoff: 100

    Trade name/Street name: Voltaren

    Approx Detection Window: <2d

  • Ibuprofen

    Description: Ibuprofen, a propionic acid derivative, is a prototypical nonsteroidal anti-inflammatory agent (NSAIA) with analgesic and antipyretic properties.

    Class: NSAID’s

    Category: Pain/Neurology

    Cutoff: 400

    Trade name/Street name: Advil, Motrin

    Approx Detection Window: <1d

  • Naproxen

    Description: An anti-inflammatory agent with analgesic and antipyretic properties. Both the acid and its sodium salt are used in the treatment of rheumatoid arthritis and other rheumatic or musculoskeletal disorders, dysmenorrhea, and acute gout.

    Class: NSAID’s

    Category: Pain/Neurology

    Cutoff: 200

    Trade name/Street name: Aleve, Naprosyn

    Approx Detection Window: 10d

  • Salicylic Acid

    Description: A compound obtained from the bark of the white willow and wintergreen leaves, and also prepared synthetically. It has bacteriostatic, fungicidal, and keratolytic actions. Its salts, the salicylates, are used as analgesics.

    Class: NSAID’s

    Category: Pain/Neurology

    Cutoff: 400

    Trade name/Street name: Aspirin

    Approx Detection Window: 6d

  • Ketamine

    Description: Ketamine is an NMDA receptor antagonist with a potent anesthetic effect. It was developed in 1963 as a replacement for phencyclidine (PCP) by Calvin Stevens at Parke Davis Laboratories. It started being used for veterinary purposes in Belgium and in 1964 was proven that compared to PCP, it produced minor hallucinogenic effects and shorter psychotomimetic effects. It was FDA approved in 1970, and from there, it has been used as an anesthetic for children or patients undergoing minor surgeries but mainly for veterinary purposes.

    Class: Anesthetic

    Category: Pain/Neurology

    Cutoff: 100

    Trade name/Street name: Ketamine

    Approx Detection Window: 2d

  • Norketamine

    Description: The active metabolite of the prodrug Ketamine.

    Class: Anesthetic

    Category: Pain/Neurology

    Cutoff: 100

    Trade name/Street name: (Ketamine metabolite)

    Approx Detection Window: 2d

  • Dexlansoprazole

    Description: Dexlansoprazole is an oral delayed-release drug for the treatment of erosive esophagitis and gastro-oesophageal reflux disease for adult patients as well as patients aged 12-17. Approved in 2009 by FDA, it is available as a delayed-release capsule and delayed-release orally disintegrating tablets (SoluTab). Dexlansoprazole is a proton pump inhibitor and R-enantiomer of lansoprazole. Its dual-delivery system is intended for extended plasma concentration and therapeutic effects, in comparison to other single-release proton pump inhibitors. Capsule formulation of dexlansoprazole also allows dosing at any time of the day without regard to meals

    Class: Proton Pump Inhibitors

    Category: Gastrointesnatil

    Cutoff: 100

    Trade name/Street name: Dexilant, Kapidex

    Approx Detection Window: <1d

  • Esomeprazole

    Description: A highly effective inhibitor of gastric acid secretion used in the therapy of stomach ulcers and zollinger-ellison syndrome. The drug inhibits the H(+)-K(+)-ATPase (H(+)-K(+)-exchanging ATPase) in the proton pump of gastric parietal cells.

    Class: Proton Pump Inhibitors

    Category: Gastrointesnatil

    Cutoff: 100

    Trade name/Street name: Nexium

    Approx Detection Window: <1d

  • Diazepam

    Description: A benzodiazepine with anticonvulsant, anxiolytic, sedative, muscle relaxant, and amnesic properties and a long duration of action. Its actions are mediated by enhancement of gamma-aminobutyric acid activity. It is used in the treatment of severe anxiety disorders, as a hypnotic in the short-term management of insomnia, as a sedative and premedicant, as an anticonvulsant, and in the management of alcohol withdrawal syndrome.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Valium

    Approx Detection Window: 10d

  • Chlordiazepoxide

    Description: An anxiolytic benzodiazepine derivative with anticonvulsant, sedative, and amnesic properties. It has also been used in the symptomatic treatment of alcohol withdrawal.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Librium

    Approx Detection Window: 5d

  • Nordiazepam

    Description: An intermediate in the metabolism of DIAZEPAM to OXAZEPAM. It may have actions similar to those of diazepam.

    Class:Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: (Diazepam metabolite)

    Approx Detection Window: 10d

  • Oxazepam

    Description: Oxazepam is an intermediate-acting benzodiazepine used to treat alcohol withdrawal and anxiety disorders. Oxazepam is also the metabolite of other benzodiazpines.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Serax

    Approx Detection Window: 5d

  • Estazolam

    Description: A benzodiazepine with anticonvulsant, hypnotic, and muscle relaxant properties. It has been shown in some cases to be more potent than diazepam or nitrazepam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Prosom

    Approx Detection Window: 4d

  • Lorazepam

    Description: A benzodiazepine used as an anti-anxiety agent with few side effects. It also has hypnotic, anticonvulsant, and considerable sedative properties and has been proposed as a preanesthetic agent.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Ativan

    Approx Detection Window:7d

  • Temazepam

    Description: A benzodiazepine that acts as a gamma-aminobutyric acid modulator and anti-anxiety agent.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Restoril

    Approx Detection Window: 5d

  • Buspirone

    Description: An anxiolytic agent and a serotonin receptor agonist belonging to the azaspirodecanedione class of compounds. Its structure is unrelated to those of the benzodiazepines, but it has an efficacy comparable to diazepam.

    Class: Benzodiazepines/Anxiolytics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Buspar

    Approx Detection Window: 4d

  • Zaleplon

    Description: Zaleplon is a sedative/hypnotic, mainly used for insomnia. It is known as a nonbenzodiazepine hypnotic. Zaleplon interacts with the GABA receptor complex and shares some of the pharmacological properties of the benzodiazepines. Zaleplon is a schedule IV drug in the United States.

    Class: Hypnotics

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Sonata

    Approx Detection Window: <2d

  • Zolpidem

    Description: Zolpidem is a prescription short-acting nonbenzodiazepine hypnotic that potentiates gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, by binding to benzodiazepine receptors which are located on the gamma-aminobutyric acid receptors. Zolpidem is used for the short-term treatment of insomnia. It works quickly (usually within 15 minutes) and has a short half-life (2-3 hours). It is classified as an imidazopyridine. As an anticonvulsant and muscle relaxant, the beneficial effects start to emerge at 10 and 20 times the dose required for sedation, respectively. For that reason, it has never been approved for either muscle relaxation or seizure prevention. Recently, zolpidem has been cited in various medical reports mainly in the United Kingdom as waking persistent vegetative state (PVS) patients, and dramatically improving the conditions of people with brain injuries.

    Class: Hypnotics

    Category: Psychiatric

    Cutoff: 10

    Trade name/Street name: Ambien

    Approx Detection Window: 4d

  • Zolpidem-P4CA

    Description: The active metabolite of the prodrug Zolpidem.

    Class: Hypnotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: (Zolpidem metabolite)

    Approx Detection Window: 4d

  • Codeine

    Description: An opioid analgesic related to morphine but with less potent analgesic properties and mild sedative effects. It also acts centrally to suppress cough.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Tylenol #3

    Approx Detection Window: 4d

  • Omeprazole

    Description: A highly effective inhibitor of gastric acid secretion used in the therapy of stomach ulcers and Zollinger-Ellison syndrome. Omeprazole belongs to a class of antisecretory compounds, the substituted benzimidazoles, that suppress gastric acid secretion by specific inhibition of the H+/K+ ATPase enzyme system at the secretory surface of the gastric parietal cell.

    Class: Proton Pump Inhibitors

    Category: Gastrointesnatil

    Cutoff: 100

    Trade name/Street name: Prilosec

    Approx Detection Window: <1d

  • Pantoprazole

    Description: Pantoprazole is a proton pump inhibitor drug used for short-term treatment of erosion and ulceration of the esophagus caused by gastroesophageal reflux disease.

    Class: Proton Pump Inhibitors

    Category: Gastrointesnatil

    Cutoff: 100

    Trade name/Street name: Protonix

    Approx Detection Window: <1d

  • Ondansetron

    Description: A competitive serotonin type 3 receptor antagonist. It is effective in the treatment of nausea and vomiting caused by cytotoxic chemotherapy drugs, including cisplatin, and has reported anxiolytic and neuroleptic properties.

    Class: GI Others

    Category: Gastrointesnatil

    Cutoff: 100

    Trade name/Street name: Zofran, Zuplenz

    Approx Detection Window: <1d

  • Sildenafil

    Description: Sildenafil is a vasoactive agent used to treat erectile dysfunction and reduce symptoms in patients with pulmonary arterial hypertension (PAH). Sildenafil elevates levels of the second messenger, cGMP, by inhibiting its breakdown via phosphodiesterase type 5 (PDE5). PDE5 is found in particularly high concentrations in the corpus cavernosum, erectile tissue of the penis. It is also found in the retina and vascular endothelium. Increased cGMP results in vasodilation which facilitates generation and maintenance of an erection. The vasodilatory effects of sildenafil also help reduce symptoms of PAH.

    Class: PDE5 Inhibitors

    Category: Urologicals

    Cutoff: 100

    Trade name/Street name: Viagora, Revatio

    Approx Detection Window: <1d

  • Tadalafil

    Description: Tadalafil is an orally adminstered drug used to treat male erectile dysfunction (impotence). It is marketed worldwide under the brand name Cialis. It is a phosphodiesterase 5 (PDE5) inhibitor. Tadalafil's distinguishing pharmacologic feature is its longer half-life (17.5 hours) compared with Viagra and Levitra (4-5 hours). This longer half-life results in a longer duration of action and is, in part, responsible for the Cialis nickname of the "weekend pill." This longer half-life also is the basis of current investigation for tadalafil's use in pulmonary arterial hypertension as a once-daily therapy.

    Class: PDE5 Inhibitors

    Category: Urologicals

    Cutoff: 100

    Trade name/Street name: Cialis

    Approx Detection Window: 1d

  • Vardenafil

    Description: Vardenafil (Levitra) is an oral therapy for the treatment of erectile dysfunction. It is a selective inhibitor of cyclic guanosine monophosphate (cGMP)-specific phosphodiesterase type 5 (PDE5). Penile erection is a hemodynamic process initiated by the relaxation of smooth muscle in the corpus cavernosum and its associated arterioles. During sexual stimulation, nitric oxide is released from nerve endings and endothelial cells in the corpus cavernosum. Nitric oxide activates the enzyme guanylate cyclase resulting in increased synthesis of cyclic guanosine monophosphate (cGMP) in the smooth muscle cells of the corpus cavernosum. The cGMP in turn triggers smooth muscle relaxation, allowing increased blood flow into the penis, resulting in erection. The tissue concentration of cGMP is regulated by both the rates of synthesis and degradation via phosphodiesterases (PDEs). The most abundant PDE in the human corpus cavernosum is the cGMPspecific phosphodiesterase type 5 (PDE5); therefore, the inhibition of PDE5 enhances erectile function by increasing the amount of cGMP.

    Class: PDE5 Inhibitors

    Category: Urologicals

    Cutoff: 100

    Trade name/Street name: Levitra, Staxyn

    Approx Detection Window: <1d

  • Acetaminophen

    Description: Acetaminophen, also known as paracetamol, is commonly used for its analgesic and antipyretic effects. Its therapeutic effects are similar to salicylates, but it lacks anti-inflammatory, antiplatelet, and gastric ulcerative effects.

    Class: OTC

    Category: OTC/Supplement/Herbals

    Cutoff: 200

    Trade name/Street name: Tylenol

    Approx Detection Window: 2d

  • Pseudoephedrine

    Description: An alpha- and beta-adrenergic agonist that may also enhance release of norepinephrine. It has been used in the treatment of several disorders including asthma, heart failure, rhinitis, and urinary incontinence, and for its central nervous system stimulatory effects in the treatment of narcolepsy and depression. It has become less extensively used with the advent of more selective agonists.

    Class: OTC

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Sudafed

    Approx Detection Window: 5d

  • Dextromethorphan

    Description: The d-isomer of the codeine analog of levorphanol. Dextromethorphan shows high affinity binding to several regions of the brain, including the medullary cough center. This compound is an NMDA receptor antagonist (receptors, N-methyl-D-aspartate) and acts as a non-competitive channel blocker. It is one of the widely used antitussives, and is also used to study the involvement of glutamate receptors in neurotoxicity.

    Class: OTC

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Robitussin, Delsym

    Approx Detection Window: 2-5d

  • Dextrorphan

    Description: The active metabolite of the prodrug Dextromethorphan

    Class: OTC

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Dextromethorphan metabolite

    Approx Detection Window: 2-5d

  • Nicotinamide

    Description: An important compound functioning as a component of the coenzyme NAD. Its primary significance is in the prevention and/or cure of blacktongue and pellagra. Most animals cannot manufacture this compound in amounts sufficient to prevent nutritional deficiency and it therefore must be supplemented through dietary intake.

    Class: Vitamins

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Nicazel

    Approx Detection Window: 4d

  • Nicotinic Acid

    Description: A water-soluble vitamin of the B complex occurring in various animal and plant tissues. It is required by the body for the formation of coenzymes NAD and NADP. It has pellagra-curative, vasodilating, and antilipemic properties.

    Class: Vitamins

    Category: OTC/Supplement/Herbals

    Cutoff: 800

    Trade name/Street name: Niaspan, Niacor

    Approx Detection Window: 4d

  • Isorhamnetin

    Description: Isorhamnetin is an O-methylated flavon-ol from the class of flavonoids. A common food source of this 3'-methoxylated derivative of quercetin and its glucoside conjugates are pungent yellow or red onions, in which it is a minor pigment, quercetin-3,4'-diglucoside and quercetin-4'-glucoside and the aglycone quercetin being the major pigments. Another source is the spice, herbal medicinal and psychedelic Mexican tarragon (Tagetes lucida), which is described as accumulating isorhamnetin and its 7-O-glucoside derivate.

    Class: Flavonoids

    Category: Flavonoids

    Cutoff: 100

    Trade name/Street name: St. Johns Wort

    Approx Detection Window: 3d

  • Bilobalide

    Description: Bilobalide is a biologically active terpenic trilactone present in Ginkgo biloba.

    Class: Ginko Bilobas

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Ginko Biloba

    Approx Detection Window: 3d

  • Ginkgolide A

    Description: A highly active PAF antagonist cage molecule that is isolated from the leaves of the Ginkgo biloba tree. Shows potential in a wide variety of inflammatory and immunological disorders.

    Class: Ginko Bilobas

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Ginko Biloba

    Approx Detection Window: 1d

  • PCP

    Description: A hallucinogen formerly used as a veterinary anesthetic, and briefly as a general anesthetic for humans. Phencyclidine is similar to ketamine in structure and in many of its effects. Like ketamine, it can produce a dissociative state. It exerts its pharmacological action through inhibition of NMDA receptors (receptors, N-methyl-D-aspartate). As a drug of abuse, it is known as PCP and Angel Dust.

    Class: Illicts

    Category: Illicts

    Cutoff: 10

    Trade name/Street name: Angel Dust

    Approx Detection Window: 8d

  • MDA

    Description: 3,4-Methylene​dioxy​amphetamine (MDA), is an empathogen-entactogen, psychostimulant, and psychedelic drug of the amphetamine family that is encountered mainly as a recreational drug. In terms of pharmacology, MDA acts most importantly as a serotonin-norepinephrine-dopamine releasing agent (SNDRA). Due to its euphoriant and hallucinogenic effects, the drug is a controlled substance and its possession and sale are illegal in most countries.

    MDA is rarely sought after as a recreational drug compared to other drugs in the amphetamine family, however it remains an important and widely used drug due to it being a primary metabolite, the product of hepatic N-dealkylation, of MDMA (ecstasy), In addition, it is not uncommon to find MDA as an adulterant of illicitly produced MDMA. Although illegal, MDA is bought, sold, and used as a recreational 'love drug', due to its enhancement of mood and empathy. A recreational dose of MDA is sometimes cited as being between 100 and 160 mg.

    Class: Illicts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Sally

    Approx Detection Window: 3d

  • MDEA

    Description: Methyl diethanolamine, also known as N-methyl diethanolamine and more commonly as MDEA, is the organic compound with the formula CH3N(C2H4OH)2. It is a, colorless liquid with an ammonia odor. It is miscible with water, alcohol and benzene. A tertiary amine, it is widely used as a sweetening agent in chemical, oil refinery, syngas production and natural gas.

    Similar compounds are monoethanolamine (MEA), a primary amine, and diethanolamine (DEA), a secondary amine, both of which are also used for amine gas treating. MDEA's defining characteristic when compared to these other amines is its ability to preferentially remove H2S (and strip CO2) from sour gas streams.

    MDEA's popularity as a solvent for gas treating stems from several advantages it has when compared to other alkanolamines. One of these advantages is a low vapor pressure, which allows for high amine compositions without appreciable losses through the absorber and regenerator. MDEA is also resistant to thermal and chemical degradation and is largely immiscible with hydrocarbons. Lastly, MDEA has a relatively low heat of reaction with hydrogen sulfide and carbon dioxide, which allows for lower reboiler duties, thus lower operating costs.

    Class: Illicts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Eve

    Approx Detection Window: 3d

  • MDMA

    Description: An N-substituted amphetamine analog. It is a widely abused drug classified as a hallucinogen and causes marked, long-lasting changes in brain serotonergic systems. It is commonly referred to as MDMA or ecstasy. It is a widely abused drug classified as a hallucinogen and causes marked, long-lasting changes in brain serotonergic systems.

    Class: Illicts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Ecstacy, Molly

    Approx Detection Window: 3d

  • Cocaine

    Description: An alkaloid ester extracted from the leaves of plants including coca. It is a local anesthetic and vasoconstrictor and is clinically used for that purpose, particularly in the eye, ear, nose, and throat. It also has powerful central nervous system effects similar to the amphetamines and is a drug of abuse. Cocaine, like amphetamines, acts by multiple mechanisms on brain catecholaminergic neurons; the mechanism of its reinforcing effects is thought to involve inhibition of dopamine uptake.

    Class: Illicts

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: Cocaine

    Approx Detection Window: 3d

  • Benzoylecgonine

    Description: The active metabolite of the prodrug Cocaine.

    Class: Illicts

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: (Cocaine metabolite)

    Approx Detection Window: 5d

  • 6-Acetlymorphine

    Description: The active metabolite of the prodrug Heroin.

    Class: Illicts

    Category: Illicts

    Cutoff: 20

    Trade name/Street name: (Heroin metabolite)

    Approx Detection Window: 4d

  • THC-COOH

    Description: 11-Nor-9-carboxy-Δ9-tetrahydrocannabinol (11-COOH-THC or THC-COOH), often referred to as 11-nor-9-carboxy-THC or THC-11-oic acid, is the main secondary metabolite of tetrahydrocannabinol (THC), which is formed in the body after cannabis is consumed.

    The use of the plant species Cannabis sativa and Cannabis indica, popularly known as marijuana, has gained popularity in recent years for the management of a wide variety of medical conditions as a wave of legalization in North America has changed public and medical opinion on its use. Consequently, an expanding body of evidence has begun to emerge that has demonstrated its potential usefulness in the management of conditions such as chronic pain, spasticity, inflammation, epilepsy, and chemotherapy-induced nausea and vomiting among many others[2]. This area of research is controversial and has been heavily debated, however, due to concerns over risks of addiction, long-term health effects, and Cannabis' association with schizophrenia.

    Class: Illicts

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: Cannabis, Marinol

    Approx Detection Window: 5-30d

  • 25I-NBOMe

    Description: 25I-NBOMe (2C-I-NBOMe, Cimbi-5, also shortened to "25I") is a psychedelic hallucinogen that is used in biochemistry research for mapping the brains usage of the type 2A serotonin receptor and later also has been used for recreational purpose. It is derivative of the substituted phenethylamine 2C-I and is the most well-known member of the 25-NB family. It was discovered in 2003 by chemist Ralf Heim at the Free University of Berlin, who published his findings in his PhD dissertation. The compound was subsequently investigated by a team at Purdue University led by David Nichols.

    The carbon-11 labelled version of 25I-NBOMe, [11C]Cimbi-5, was synthesized and validated as a radiotracer for positron emission tomography (PET) in Copenhagen.Being the first 5-HT2A receptor full agonist PET radioligand, [11C]-CIMBI-5 shows promise as a more functional marker of these receptors, particularly in their high affinity states.

    Street names and media nicknames for this drug are: "N-Bomb", "Solaris", "Smiles" or "Wizard"

    Class: Psychedelics

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Illicit psychedelic

    Approx Detection Window: 2-5d

  • DMT

    Description: N,N-Dimethyltryptamine (DMT or N,N-DMT) is a tryptamine molecule which occurs in many plants and animals. It can be consumed as a powerful entheogen and has historically been prepared by various cultures for ritual purposes.[4] Rick Strassman labeled it "the spirit molecule". In most countries, DMT is illegal.

    DMT has a relatively short duration of action, intense effects and rapid onset. For that reason, DMT was known as the "businessman's trip" during the 1960s in the United States, as a user could access the full depth of a psychedelic experience in considerably less time than with other entheogens such as LSD or magic mushrooms. DMT can be inhaled, injected, vaped or orally ingested, and its effects depend on the dose. When inhaled or injected, the effects last a short period of time: about 5 to 15 minutes. Effects can last 3 hours or more when orally ingested along with a MAOI, such as the ayahuasca brew of many native Amazonian tribes. DMT can produce vivid "projections" of mystical experiences involving euphoria and dynamic hallucinations of geometric forms.

    Class: Psychedelics

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Illicit psychedelic

    Approx Detection Window: 2-5d

  • DOB

    Description: 4-Bromo-2,5-dimethoxyamphetamine (also known as Dimethoxybromoamphetamine, Brolamfetamine, Bromo-DMA, and commonly as DOB) is a psychedelic substance of the amphetamine class that produces unusually long-lived psychedelic effects when administered. It is a member of the DOx family of psychedelic amphetamines. DOB's psychedelic effects are believed to come from its efficacy at the 5-HT2A receptor as a partial agonist. Due to its selectivity, DOB is often used in scientific research when studying the 5-HT2 receptor subfamily. It has been suggested that DOB is a prodrug metabolized in the lungs. DOB is an agonist at the Trace-Amine-Associated-Receptor-1 (TAAR1) which contributes to the Amphetamine-Like stimulation.

    Class: Psychedelics

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Illicit psychedelic

    Approx Detection Window: 2-5d

  • LSD

    Description: Lysergic acid diethylamide (LSD), also known as acid, is a hallucinogenic drug. Effects typically include altered thoughts, feelings, and awareness of one's surroundings. Many users see or hear things that do not exist. Dilated pupils, increased blood pressure, and increased body temperature are typical. Effect typically begin within half an hour and can last for up to 12 hours. It is used mainly as a recreational drug and for spiritual reasons.
    LSD does not appear to be addictive. However, adverse psychiatric reactions such as anxiety, paranoia, and delusions are possible. Long term flashbacks may occur despite no further use. Death as a result of LSD is very rare, though occasionally occurs via accidents. The effects of LSD are believed to occur as a result of alterations in the serotonin system. As little as 20 micrograms can produce an effect. In pure form LSD is clear or white in color, has no smell, and is crystalline. It breaks down with exposure to ultraviolet light.

    Class: Psychedelics

    Category: Illicts

    Cutoff: 10

    Trade name/Street name: Acid

    Approx Detection Window: <1d

  • Psilocin

    Description: Psilocin is the pharmacologically active agent in the body after ingestion of psilocybin or some species of psychedelic mushrooms.

    Psilocybin is rapidly dephosphorylated in the body to psilocin which acts as a 5-HT2A, 5-HT2C and 5-HT1A agonist or partial agonist. Psilocin exhibits functional selectivity in that it activates phospholipase A2 instead of activating phospholipase C as the endogenous ligand serotonin does. Psilocin is structurally similar to serotonin (5-HT), differing only by the hydroxyl group being on the 4-position rather than the 5 and the dimethyl groups on the nitrogen. Its effects are thought to come from its partial agonist activity at 5-HT2A serotonin receptors in the prefrontal cortex.

    Psilocin has no significant effect on dopamine receptors (unlike LSD) and only affects the noradrenergic system at very high dosages.

    Psilocin's half-life ranges from 1 to 3 hours

    Class: Psychedelics

    Category: Illicts

    Cutoff: 10

    Trade name/Street name: Mushrooms

    Approx Detection Window: <1d

  • Noroxymorphone

    Description: The active metabolite of the prodrug Oxymorphone.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Oxymorphone metabolite)

    Approx Detection Window: 4d

  • Propoxyphene

    Description: Dextropropoxyphene is an analgesic in the opioid category, patented (1955) and manufactured by Eli Lilly and Company. It is intended to treat mild pain and also has antitussive and local anaesthetic effects. The drug has been taken off the market in Europe and the US due to concerns of fatal overdoses and heart arrhythmias. An estimated 10 million patients have used these products.

    The drug is often referred to as the general form, "propoxyphene", however only the dextro-isomer (dextropropoxyphene) has any analgesic effect. The levo-isomer appears to exhibit a very limited antitussive effect.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Darvon, Darvocet

    Approx Detection Window: 5d

  • Norpropoxyphene

    Description: The active metabolite of the prodrug Propoxyphene.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Propoxyphene metabolite)

    Approx Detection Window: 5d

    Compound: Buprenorphine

    Description: Buprenorphine is a derivative of the opioid alkaloid thebaine that is a more potent (25 - 40 times) and longer lasting analgesic than morphine. It appears to act as a partial agonist at mu and kappa opioid receptors and as an antagonist at delta receptors. The lack of delta-agonist activity has been suggested to account for the observation that buprenorphine tolerance may not develop with chronic use.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 10

    Trade name/Street name: Suboxone, Butrans

    Approx Detection Window: 7d

  • Norbuprenorphine

    Description: The active metabolite of the prodrug buprenorphine.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 10

    Trade name/Street name: Buprenorphine metabolite

    Approx Detection Window: 7d

  • Fentanyl

    Description: A potent narcotic analgesic, abuse of which leads to habituation or addiction. It is primarily a mu-opioid agonist. Fentanyl is also used as an adjunct to general anesthetics, and as an anesthetic for induction and maintenance.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 5

    Trade name/Street name: Actiq, Duragesic

    Approx Detection Window: 3d

  • Sufentanil

    Description: An opioid analgesic that is used as an adjunct in anesthesia, in balanced anesthesia, and as a primary anesthetic agent.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Sufenta

    Approx Detection Window: 2d

  • Tramadol

    Description: A narcotic analgesic proposed for moderate to severe pain. It may be habituating. Tramadol is also prepared as a variable release capsules, marketed under the brand name ConZip. For example, a 150 mg capsule will contain 37.5 mg of the immediate release form and 112.5 mg of the extended release form.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Ultram

    Approx Detection Window:4d

  • N-Desmethyl-cis-tramadol

    Description: The active metabolite of the prodrug Tramadol.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Tramadol metabolite)

    Approx Detection Window: 4d

  • O-Desmethyltramadol

    Description: The active metabolite of the prodrug Tramadol.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Tramadol metabolite)

    Approx Detection Window: 4d

  • Desomorphine

    Description: Desomorphine is a synthetic opioid developed by Roche, with powerful, fast-acting effects, such as sedation and analgesia. First synthesized in 1932 and patented in 1934 in the United States,] desomorphine was used in Switzerland under the brand name Permonid and was described as having a fast onset and a short duration of action, with relatively little nausea compared to equivalent doses of morphine. Dose-by-dose it is eight to ten times more potent than morphine.

    Desomorphine is a morphine analogue where the 6-hydroxyl group and the 7,8 double bond have been reduced. The traditional synthesis of desomorphine starts from α-chlorocodide, which is itself obtained by reacting thionyl chloride with codeine. By catalytic reduction, α-chlorocodide gives dihydrodesoxycodeine, which yields desomorphine on demethylation.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Krokodil

    Approx Detection Window: <1d

  • Methadone

    A synthetic opioid that is used as the hydrochloride. It is an opioid analgesic that is primarily a mu-opioid agonist. It has actions and uses similar to those of morphine. It also has a depressant action on the cough center and may be given to control intractable cough associated with terminal lung cancer. Methadone is also used as part of the treatment of dependence on opioid drugs, although prolonged use of methadone itself may result in dependence.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Methadone

    Approx Detection Window: 5d

  • EDDP

    Description: The active metabolite of the prodrug Methadone.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Methadone metabolite)

    Approx Detection Window: 5d

  • Normeperidine

    Description: The active metabolite of the prodrug Merperidine.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Merperidine metabolite)

    Approx Detection Window: 3d

  • Meperidine

    Description: A narcotic analgesic that can be used for the relief of most types of moderate to severe pain, including postoperative pain and the pain of labor. Prolonged use may lead to dependence of the morphine type; withdrawal symptoms appear more rapidly than with morphine and are of shorter duration.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Demerol, Pethidine

    Approx Detection Window: 3d

  • Pentazocine

    Description: The first mixed agonist-antagonist analgesic to be marketed. It is an agonist at the kappa and sigma opioid receptors and has a weak antagonist action at the mu receptor. (

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Talwin

    Approx Detection Window: 2d

  • Tapentadol

    Description: Opioid analgesic for treatment of moderate to severe pain. FDA approved on Nov 20, 2008.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Nucynta

    Approx Detection Window: 3d

  • N-Desmethyltapentadol

    Description: The active metabolite of the prodrug Tapentadol.

    Class: Synthetic Opiates

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Tapentadol metabolite)

    Approx Detection Window: 3d

  • Naloxone

    Description: Naloxone is an opioid antagonist medication used to block or reverse the effects of opioid drugs, particularly within the setting of drug overdoses which are rapidly becoming a leading cause of death worldwide. More specifically, naloxone has a high affinity for μ-opioid receptors, where it acts as an inverse agonist, causing the rapid removal of any other drugs bound to these receptors. When taken in large quantities, opioid medications such as morphine, hydromorphone, methadone, heroin, or fentanyl are capable of causing life-threatening symptoms such as respiratory depression, reduced heart rate, slurred speech, drowsiness, and constricted pupils. If untreated, this can progress to vomiting, absent pulse and breathing, loss of consciousness, and even death. Naloxone is indicated for the rapid reversal of these symptoms of central nervous system depression in opioid overdose. It's important to note that naloxone only works on opioid receptors within the body, and is therefore not capable of reversing the effects of non-opioid medications such as stimulants like methamphetamine or cocaine, or benzodiazepines like lorazepam or diazepam.

    Also known as the brand name product Narcan, naloxone is currently available by intramuscular (IM) or subcutaneous (SubQ) injection, nasal spray, or intravenous (IV) infusion. Naloxone IM injections are commonly available in the form of "kits", which is ideal for making overdose treatment accessible and readily available for administration by minimally trained individuals within the community. Kits commonly include the supplies necessary to treat an overdose in a non-medical setting such as alcohol swabs, syringes, a rescue breathing mask, and instructions for use. Frequently also carried by medical and emergency personnel and at events known to be associated with heavy drug use like music festivals, naloxone kits are considered a key component of harm reduction strategies.

    When injected intramuscularly (IM), naloxone acts within 3-5 minutes and can last from 30-60 minutes before its effects wear off. Administration of naloxone is associated with very few side effects. Notably, if injected into a person not currently using opioid medications, there would be no noticeable effects at all. However, for individuals using opioid medications or experiencing an overdose, IM injection of naloxone rapidly reverses opioid effects and can cause the injected individual to immediately experience withdrawal symptoms. Common symptoms of opioid withdrawal include nausea, vomiting, sweating, runny nose, aches, and diarrhea. Although certainly physically uncomfortable, opioid withdrawal symptoms are not life-threatening like they are for alcohol withdrawals. Administration of naloxone is therefore appropriate for any person appearing to have any symptoms of an opioid overdose. Due to its short duration of action, person's injected with naloxone should be monitored for responsiveness and potentially injected a second time or taken to the hospital.

    Naloxone is also available within the combination product Suboxone with the opioid medication buprenorphine. Suboxone is used for the maintenance treatment of opioid dependence and addiction. When taken orally, naloxone has no pharmacological effect and does not reduce the effectiveness of the opioid effect of buprenorphine. The primary purpose of including naloxone within Suboxone is to act as a deterrent to injection, as injected naloxone would rapidly reverse the effects of buprenorphine.

    Class: Opioid AntagonistS

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name:Evzio, Narcan

    Approx Detection Window: <1d

  • Naltrexone

    Description: Derivative of noroxymorphone that is the N-cyclopropylmethyl congener of naloxone. It is a narcotic antagonist that is effective orally, longer lasting and more potent than naloxone, and has been proposed for the treatment of heroin addiction. The FDA has approved naltrexone for the treatment of alcohol dependence.

    Class: Opioid AntagonistS

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Revia, Vivitrol

    Approx Detection Window: 4d

  • Baclofen

    Description: Baclofen is a gamma-amino-butyric acid (GABA) derivative used as a skeletal muscle relaxant. Baclofen stimulates GABA-B receptors leading to decreased frequency and amplitude of muscle spasms. It is especially useful in treating muscle spasticity associated with spinal cord injury. It appears to act primarily at the spinal cord level by inhibiting spinal polysynaptic afferent pathways and, to a lesser extent, monosynaptic afferent pathways.

    Class: Muscle Relaxers

    Category: Pain/Neurology

    Cutoff: 100

    Trade name/Street name: Kemstro

    Approx Detection Window: 3d

  • Cyclobenzaprine

    Description: Cyclobenzaprine is a skeletal muscle relaxant and a central nervous system (CNS) depressant. Cyclobenzaprine acts on the locus coeruleus where it results in increased norepinephrine release, potentially through the gamma fibers which innervate and inhibit the alpha motor neurons in the ventral horn of the spinal cord. It is structurally similar to Amitriptyline, differing by only one double bond.

    Class: Muscle Relaxers

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Flexeril

    Approx Detection Window: 8d

  • Norcyclobenzaprine

    Description: The active metabolite of the prodrug Cyclobenzaprine.

    Class: Muscle Relaxers

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Cyclobenzaprine metabolite)

    Approx Detection Window: 8d

  • Carisoprodol

    Description: A centrally acting skeletal muscle relaxant whose mechanism of action is not completely understood but may be related to its sedative actions. It is used as an adjunct in the symptomatic treatment of musculoskeletal conditions associated with painful muscle spasm.

    Class: Muscle Relaxers

    Category: Pain/Neurology

    Cutoff: 100

    Trade name/Street name:Soma

    Approx Detection Window: <1d

  • Meprobamate

    Description: A carbamate with hypnotic, sedative, and some muscle relaxant properties, although in therapeutic doses reduction of anxiety rather than a direct effect may be responsible for muscle relaxation. Meprobamate has been reported to have anticonvulsant actions against petit mal seizures, but not against grand mal seizures (which may be exacerbated). It is used in the treatment of anxiety disorders, and also for the short-term management of insomnia but has largely been superseded by the benzodiazepines. Meprobamate is a controlled substance in the U.S.

    Class: Muscle Relaxers

    Category: Pain/Neurology

    Cutoff: 100

    Trade name/Street name: Equanil

    Approx Detection Window: 3d

  • Gabapentin

    Description: Gabapentin (brand name Neurontin) is a medication originally developed for the treatment of epilepsy. Presently, gabapentin is widely used to relieve pain, especially neuropathic pain. Gabapentin is well tolerated in most patients, has a relatively mild side-effect profile, and passes through the body unmetabolized.

    Class: Anticonvulsants

    Category: Pain/Neurology

    Cutoff: 400

    Trade name/Street name: Neurontin

    Approx Detection Window: 2d

  • Pregabalin

    Description: Pregabalin is an anticonvulsant drug used for neuropathic pain, epilepsy and generalized anxiety disorder. It presents antihyperalgesic actions by binding to the α2δ subunit of the voltage-dependent calcium channels without presenting antinociceptive actions. Pregabalin is marketed by Pfizer under the trade name Lyrica and Lyrica Cr (extended release).It is considered to have a dependence liability if misused, and is classified as a Schedule V drug in the U.S.

    Class: Anticonvulsants

    Category: Pain/Neurology

    Cutoff: 400

    Trade name/Street name: Lyrica

    Approx Detection Window: 2d

  • Mitragynine

    Description:

    Class: Plant Alkaloid

    Category: OTC/Supplement/Herbals

    Cutoff:50

    Trade name/Street name:Kratom

    Approx Detection Window: 3d

  • Methylone

    Description: Methylone (also known as "3,4-methylenedioxy-N-methylcathinone", "MDMC", "βk-MDMA" and by the slang term "M1") is an empathogen and stimulant psychoactive drug. It is a member of the substituted amphetamine, substituted cathinone and substituted methylenedioxyphenethylamine classes.

    Methylone is the substituted cathinone analog of MDMA and the 3,4-methylenedioxy analog of methcathinone. The only structural difference of methylone with respect to MDMA is the substitution of 2 hydrogen atoms by 1 oxygen atom in the β position of the phenethylamine core, forming a ketone group.

    Methylone was first synthesized by the chemists Peyton Jacob III and Alexander Shulgin in 1996 for potential use as an antidepressant. Methylone has been sold for recreational use, taking advantage of the absence of legal prohibition of this compound in many countries.

    Class: Bath Salts

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: Illicit cathianone

    Approx Detection Window: 4d

  • Ethylone

    Description: Ethylone, also known as 3,4-methylenedioxy-N-ethylcathinone (MDEC, βk-MDEA), is a recreational designer drug classified as an entactogen, stimulant, and psychedelic of the phenethylamine, amphetamine, and cathinone chemical classes. It is the β-keto analogue of MDEA ("Eve"). Ethylone has only a short history of human use and is reported to be less potent than its relative methylone.[citation needed] In the United States, it began to be found in cathinone products in late 2011.

    Very little data exists about the pharmacological properties, metabolism, and toxicity of ethylone, but several ethylone-related deaths have been reported.

    Class: Bath Salts

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: Illicit cathianone

    Approx Detection Window: 4d

  • MDPV

    Description: Methylenedioxypyrovalerone (MDPV) is a stimulant of the cathinone class which acts as a norepinephrine-dopamine reuptake inhibitor (NDRI). It was first developed in the 1960s by a team at Boehringer Ingelheim. MDPV remained an obscure stimulant until around 2004 when it was reportedly sold as a designer drug. Products labeled as bath salts containing MDPV were previously sold as recreational drugs in gas stations and convenience stores in the United States, similar to the marketing for Spice and K2 as incense.

    Class: Bath Salts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Illicit cathianone

    Approx Detection Window: 4d

  • Mephedrone

    Description: Mephedrone, also known as 4-methyl methcathinone (4-MMC) or 4-methyl ephedrone, is a synthetic stimulant drug of the amphetamine and cathinone classes. Slang names include bath salts, drone, M-CAT, White Magic and meow meow. It is chemically similar to the cathinone compounds found in the khat plant of eastern Africa. It comes in the form of tablets or a powder, which users can swallow, snort or inject, producing similar effects to MDMA, amphetamines and cocaine. Users have reported that mephedrone causes euphoria, stimulation, an enhanced appreciation for music, an elevated mood, decreased hostility, improved mental function and mild sexual stimulation; these effects are similar to the effects of cocaine, amphetamines and MDMA, and last different amounts of time depending on the way the drug is taken.

    In addition to its stimulant effects, mephedrone produces side effects, of which bruxism is the most common. The metabolism of mephedrone has been studied in rats and humans and the metabolites can be detected in urine after usage.

    Class: Bath Salts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Illicit cathianone

    Approx Detection Window: 4d

  • Naphyrone

    Description: Naphyrone, also known as O-2482 and naphthylpyrovalerone, is a drug derived from pyrovalerone that acts as a triple reuptake inhibitor,producing stimulant effects and has been reported as a novel designer drug. No safety or toxicity data is available on the drug. As a triple reuptake inhibitor, naphyrone has been shown in vitro to affect the reuptake of the neurotransmitters serotonin, dopamine and norepinephrine by interacting with the serotonin transporter (SERT), dopamine transporter (DAT), and norepinephrine transporter (NET).

    The drug has been marketed under the name NRG-1, although only a minority of samples of substances sold under this name have been found to actually contain naphyrone, and even samples that proved to contain genuine β-naphyrone were in some cases also found to contain the 1-naphthyl isomer α-naphyrone in varying proportions, further confusing the reported effects profile.

    Class: Bath Salts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Illicit cathianone

    Approx Detection Window: 4d

  • Alpha-PVP

    Description: α-Pyrrolidinopentiophenone (also known as α-pyrrolidinovalerophenone, α-PVP, O-2387, β-keto-prolintane, prolintanone, or desmethylpyrovalerone) is a synthetic stimulant of the cathinone class developed in the 1960s that has been sold as a designer drug.Colloquially, it is sometimes called flakka. α-PVP is chemically related to pyrovalerone and is the ketone analog of prolintane.

    α-PVP, like other psychostimulants, can cause hyperstimulation, paranoia, and hallucinations. α-PVP has been reported to be the cause, or a significant contributory cause of death in suicides and overdoses caused by combinations of drugs. α-PVP has also been linked to at least one death with pulmonary edema and moderately advanced atherosclerotic coronary disease when it was combined with pentedrone.

    Class: Bath Salts

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: Flakka, Gravel

    Approx Detection Window: 4d

  • JWH-018

    Description: JWH-018 is a full agonist of both the CB1 and CB2 cannabinoid receptors, with a reported binding affinity of 9.00 ± 5.00 nM at CB1 and 2.94 ± 2.65 nM at CB2.JWH-018 has an EC50 of 102 nM for human CB1 receptors, and 133 nM for human CB2 receptors. JWH-018 produces bradycardia and hypothermia in rats at doses of 0.3–3 mg/kg, suggesting potent cannabinoid-like activity.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • JWH-073

    Description: JWH-073, a synthetic cannabinoid, is an analgesic chemical from the naphthoylindole family that acts as a partial agonist at both the CB1 and CB2 cannabinoid receptors. JWH-073 has been shown to produce behavioral effects very similar to THC in animals.

    Its effects are produced by binding and acting as an agonist to the CB1 and CB2 cannabinoid receptors. The CB1 receptor is found in the brain. JWH-073 bind to CB1 with a higher affinity than THC, suggesting that taking more too soon after the initial dose could lead to diminished effects. CB2 is found outside the brain, mostly in the immune system. The binding with CB2 receptors has been shown to be similar between JWH-073 and THC.

    A search in the literature yielded no published studies of the effects of JWH-073 in humans, but these studies in animals suggest with high probability that JWH-073 produces effects very similar to those of THC in humans.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • JWH-081

    Description: JWH-081 is an analgesic chemical from the naphthoylindole family, which acts as a cannabinoid agonist at both the CB1 and CB2 receptors. With a Ki of 1.2nM it is fairly selective for the CB1 subtype, its affinity at this subtype approximately 10x the affinity at CB2. It was discovered by and named after Dr. John W. Huffman.

    JWH-081 may be neurotoxic to animals when administered in high doses

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • JWH-122

    Description: JWH-122 is a synthetic cannabimimetic that was discovered by John W. Huffman. It is a methylated analogue of JWH-018. It has a Ki of 0.69 nM at CB1 and 1.2 nM at CB2.

    In January 2015, over 40 people were reportedly sickened after eating a holiday bread called Rosca de reyes purchased at a bakery in Santa Ana, CA that was laced with JWH-122.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • JWH-250

    Description: JWH-250 or (1-pentyl-3-(2-methoxyphenylacetyl)indole) is an analgesic chemical from the phenylacetylindole family that acts as a cannabinoid agonist at both the CB1 and CB2 receptors, with a Ki of 11 nM at CB1 and 33 nM at CB2. Unlike many of the older JWH series compounds, this compound does not have a naphthalene ring, instead occupying this position with a 2'-methoxy-phenylacetyl group, making JWH-250 a representative member of a new class of cannabinoid ligands. Other 2'-substituted analogues such as the methyl, chloro and bromo compounds are also active and somewhat more potent.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • AM-2201

    Description: AM-2201 is a full agonist for cannabinoid receptors and a recreational designer drug that acts as a potent but nonselective full agonist for the cannabinoid receptor. It is part of the AM series of cannabinoids discovered by Alexandros Makriyannis at Northeastern University. . Affinities are: with a Ki of 1.0 nM at CB1 and 2.6 nM at CB2. The 4-methyl functional analog MAM-2201 probably has similar affinities. AM-2201 has an EC50 of 38 nM for human CB1 receptors, and 58 nM for human CB2 receptors. AM-2201 produces bradycardia and hypothermia in rats at doses of 0.3–3 mg/kg, comparable to the potency of JWH-018 in rats, suggesting potent cannabinoid-like activity.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • MAM2201

    Description: MAM-2201 (4'-methyl-AM-2201, 5"-fluoro-JWH-122) is a drug that presumably acts as a potent agonist for the cannabinoid receptors. It had never previously been reported in the scientific or patent literature, and was first identified by laboratories in the Netherlands and Germany in June 2011 as an ingredient in synthetic cannabis smoking blends. Like RCS-4 and AB-001, MAM-2201 thus appears to be a novel compound invented by "research chemical" suppliers specifically for grey-market recreational use. Structurally, MAM-2201 is a hybrid of two known cannabinoid compounds JWH-122 and AM-2201, both of which had previously been used as active ingredients in synthetic cannabis blends before being banned in many countries.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • RCS-4

    Description: RCS-4 is a potent cannabinoid receptor agonist, with EC50 values of 146 nM for human CB1 receptors, and 46 nM for human CB2 receptors. All methoxyphenyl regioisomers, and N-butyl homologues of RCS-4 and its regioisomers also display potent agonist activities at CB1 and CB2 receptors.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 100

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • UR-144

    Description: UR-144 is a synthetic cannabinoid that’s been sold as a member of the novel psychoactive substances (NPS) market. It produces some cannabis-like effects, though there’s a lack of information about its activity.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • XLR11

    Description: XLR-11 (5"-fluoro-UR-144) is a drug that acts as a potent agonist for the cannabinoid receptors CB1 and CB2 with EC50 values of 98 nM and 83 nM, respectively. It is a 3-(tetramethylcyclopropylmethanoyl)indole derivative related to compounds such as UR-144, A-796,260 and A-834,735, but it is not specifically listed in the patent or scientific literature alongside these other similar compounds.

    Class: Synthetic Cannabinoids

    Category: Illicts

    Cutoff: 50

    Trade name/Street name: K2/Spice

    Approx Detection Window: 3d

  • Ethyl Glucuronide

    Description: The active metabolite of the prodrug Ethanol.

    Class: Ethanol Metabolites

    Category: Alcohol

    Cutoff: 500

    Trade name/Street name: (Ethanol metabolite)

    Approx Detection Window: 3d

  • Ethyl Sulfate

    Description: The active metabolite of the prodrug Ethanol.

    Class: Ethanol Metabolites

    Category: Alcohol

    Cutoff: 250

    Trade name/Street name: (Ethanol metabolite)

    Approx Detection Window: 3d

  • Morphine

    Description: The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle. In January, 2017, morphine was approved for the treatment of chronic pain.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: MS Contin, Kadian

    Approx Detection Window: 4d

  • Hydrocodone

    Description: Narcotic analgesic related to codeine, but more potent and more addicting by weight. It is used also as cough suppressant.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Lortab, Vicodin, Zohydro

    Approx Detection Window: 4d

  • Hydromorphone

    Description: An opioid analgesic derived from morphine and used mainly as an analgesic. It has a shorter duration of action and is more potent than morphine.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name:Dilaudid, Exalgo

    Approx Detection Window: 4d

  • Norhydrocodone

    Description: The active metabolite of the prodrug Hydrocodone.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Hydrocodone metabolite)

    Approx Detection Window: 4d

  • Oxycodone

    Description: Oxycodone is a semisynthetic derivative of codeine that acts as a narcotic analgesic more potent and addicting than codeine. An extended-release (ER) form of oxycodone (Xtampza ER) was approved for the management of daily, around-the-clock pain management in April, 2016.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Oxycontin, Percocet

    Approx Detection Window: 4d

    Compound: Noroxycodone

    Description: The active metabolite of the prodrug Oxycodone.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: (Oxycodone metabolite)

    Approx Detection Window: 4d

  • Oxymorphone

    Description: An opioid analgesic with actions and uses similar to those of morphine, apart from an absence of cough suppressant activity. It is used in the treatment of moderate to severe pain, including pain in obstetrics. It may also be used as an adjunct to anesthesia. On June 8, 2017, FDA requested Endo Pharmaceuticals to remove the medication from the market due to opioid misuse and abuse risks associated with the product's injectable reformulation.

    Class: Opioids

    Category: Pain/Neurology

    Cutoff: 50

    Trade name/Street name: Opana

    Approx Detection Window: 4d

  • Thioridazine

    Description: A phenothiazine antipsychotic used in the management of psychoses, including schizophrenia, and in the control of severely disturbed or agitated behavior. It has little antiemetic activity. Thioridazine has a higher incidence of antimuscarinic effects, but a lower incidence of extrapyramidal symptoms, than chlorpromazine.
    Thioridazine was withdrawn worldwide in 2005 due to it's association with cardiac arrythmias.

    Class: Antipsychotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Thioridazine

    Approx Detection Window: 10d

  • Ziprasidone

    Description: Ziprasidone (marketed as Geodon, Zeldox) was the fifth atypical antipsychotic to gain FDA approval (February 2001). Ziprasidone is Food and Drug Administration (FDA) approved for the treatment of schizophrenia, and the intramuscular injection form of ziprasidone is approved for acute agitation in schizophrenic patients. Ziprasidone has also received approval for acute treatment of mania associated with bipolar disorder.

    Class: Antipsychotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Geodon

    Approx Detection Window: 11d

  • 9-Hydroxyrisperidone

    Description: Paliperidone is the primary active metabolite of the older antipsychotic risperidone. While its specific mechanism of action is unknown, it is believed that paliperidone and risperidone act via similar if not the same pathways. It has been proposed that the drug's therapeutic activity in schizophrenia is mediated through a combination of central dopamine Type 2 (D2) and serotonin Type 2 (5HT2A) receptor antagonism. Paliperidone is also active as an antagonist at alpha 1 and alpha 2 adrenergic receptors and H1 histaminergic receptors, which may explain some of the other effects of the drug. Paliperidone was approved by the FDA for treatment of schizophrenia on December 20, 2006.

    Class: Antipsychotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Risperdal, Invega

    Approx Detection Window: 2d

  • Desmethylolanzapine

    Description: The active metabolite of the prodrug Olanzapine.

    Class: Antipsychotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: (Olanzapine metabolite)

    Approx Detection Window: 4d

  • Olanzapine

    Description: Olanzapine is an atypical antipsychotic, approved by the FDA in 1996. Olanzapine is manufactured and marketed by the pharmaceutical company Eli Lilly and Company, whose patent for olanzapine proper ends in 2011.

    Class: Antipsychotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Zyprexa

    Approx Detection Window: 4d

  • Aripiprazole

    Description: Aripiprazole is an atypical antipsychotic medication used for the treatment of schizophrenia. It has also recently received FDA approval for the treatment of acute manic and mixed episodes associated with bipolar disorder. Aripiprazole appears to mediate its antipsychotic effects primarily by partial agonism at the D2 receptor. In addition to partial agonist activity at the D2 receptor, aripiprazole is also a partial agonist at the 5-HT1A receptor, and like the other atypical antipsychotics, aripiprazole displays an antagonist profile at the 5-HT2A receptor. Aripiprazole has moderate affinity for histamine and alpha adrenergic receptors, and no appreciable affinity for cholinergic muscarinic receptors.

    Class: Antipsychotics

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Abilify

    Approx Detection Window: 21d

  • Trazodone

    Description: A serotonin uptake inhibitor that is used as an antidepressive agent. It has been shown to be effective in patients with major depressive disorders and other subsets of depressive disorders. It is generally more useful in depressive disorders associated with insomnia and anxiety. This drug does not aggravate psychotic symptoms in patients with schizophrenia or schizoaffective disorders.

    Class: Antidepressants- Other

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Oleptro

    Approx Detection Window: 2d

  • Hydroxybuproprion

    Description: A unicyclic, aminoketone antidepressant. The mechanism of its therapeutic actions is not well understood, but it does appear to block dopamine uptake. The hydrochloride is available as an aid to smoking cessation treatment.

    Class: Antidepressants- Other

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Wellbutrin

    Approx Detection Window: 10d

  • Duloxetine

    Description: Duloxetine (brand names Cymbalta, Yentreve, and in parts of Europe, Xeristar or Ariclaim) is a drug which primarily targets major depressive disorder (MDD), generalized anxiety disorder (GAD), pain related to diabetic peripheral neuropathy and in some countries stress urinary incontinence (SUI). It is manufactured and marketed by Eli Lilly and Company.

    Duloxetine has not yet been FDA approved for stress urinary incontinence or for fibromyalgia.

    Duloxetine is a selective SNRI (selective serotonin-norepinephrine reuptake inhibitor). Duloxetine is a systemic drug therapy which affects the body as a whole. Known also under the code name LY248686, it is a potent dual reuptake inhibitor of serotonin (5-hydroxytryptamine, 5-HT) and norepinephrine (NE), possessing comparable affinities in binding to NE- and 5-HT transporter sites. It is a less potent inhibitor of dopamine reuptake.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Cymbalta

    Approx Detection Window: 1d

  • Norfluoxetine

    Description: The active metabolite of the prodrug Fluoxetine.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100 :

    Trade name/Street name: (Fluoxetine metabolite)

    Approx Detection Window: 1d

  • Fluoxetine

    Description: Fluoxetine hydrochloride is the first agent of the class of antidepressants known as selective serotonin-reuptake inhibitors (SSRIs). Fluoxetine is a racemic mixture of the R- and S- enantiomers and are of equivalent pharmacologic activity. Despite distinct structural differences between compounds in this class, SSRIs possess similar pharmacological activity. As with other antidepressant agents, several weeks of therapy may be required before a clinical effect is seen. SSRIs are potent inhibitors of neuronal serotonin reuptake. They have little to no effect on norepinephrine or dopamine reuptake and do not antagonize α- or β-adrenergic, dopamine D2 or histamine H1 receptors. During acute use, SSRIs block serotonin reuptake and increase serotonin stimulation of somatodendritic 5-HT1A and terminal autoreceptors. Chronic use leads to desensitization of somatodendritic 5-HT1A and terminal autoreceptors. The overall clinical effect of increased mood and decreased anxiety is thought to be due to adaptive changes in neuronal function that leads to enhanced serotonergic neurotransmission. Side effects include dry mouth, nausea, dizziness, drowsiness, sexual dysfunction and headache. Side effects generally occur within the first two weeks of therapy and are usually less severe and frequent than those observed with tricyclic antidepressants. Fluoxetine may be used to treat major depressive disorder (MDD), moderate to severe bulimia nervosa, obsessive-compulsive disorder (OCD), premenstrual dysphoric disorder (PMDD), panic disorder with or without agoraphobia, and in combination with olanzapine for treatment-resistant or bipolar I depression. Fluoxetine is the most anorexic and stimulating SSRI.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Prozac

    Approx Detection Window: 4d

  • O-Desmethylvenlafaxine

    Description: The active metabolite of the prodrug Venlafaxine.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: (Venlafaxine metabolite)

    Approx Detection Window: 5d

  • Venlafaxine

    Description: Venlafaxine (Effexor) is an antidepressant of the serotonin-norepinephrine reuptake inhibitor (SNRI) class first introduced by Wyeth in 1993. It is prescribed for the treatment of clinical depression and anxiety disorders. Due to the pronounced side effects and suspicions that venlafaxine may significantly increase the risk of suicide it is not recommended as a first line treatment of depression. However, it is often effective for depression not responding to SSRIs. Venlafaxine was the sixth most widely-used antidepressant based on the amount of retail prescriptions in the US (17.1 million) in 2006.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Effexor

    Approx Detection Window: 5d

  • N-Desmethylcitalopram

    Description: The active metabolite of the prodrug Citalopram.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: (Citalopram metabolite)

    Approx Detection Window: 12d

  • Citalopram

    Description: Citalopram belongs to a class of antidepressant agents known as selective serotonin-reuptake inhibitors (SSRIs). In spite of structural differences between compounds in this class, the SSRIs possess similar pharmacological activity. As with other antidepressant agents, several weeks of therapy may be indicated before a clinical effect is noticed. SSRIs are potent inhibitors of serotonin reuptake in the neurons. They have little to no effect on norepinephrine or dopamine reuptake and do not antagonize α- or β-adrenergic, dopamine D2 or histamine H1 receptors. During acute usage, SSRIs inhibit serotonin reuptake and increase serotonin stimulation of somatodendritic 5-HT1A and terminal autoreceptors. Chronic use leads to desensitization of somatodendritic 5-HT1A and terminal autoreceptors. The general clinical effect of increased mood and decreased anxiety is thought to be due to adaptive changes in neuronal function that leads to enhanced serotonergic neurotransmission. Side effects include dry mouth, nausea, dizziness, drowsiness, sexual dysfunction, and headache. Side effects generally occur within the first two weeks of therapy and are usually less severe and frequent than those observed with tricyclic antidepressants. Citalopram is approved for treatment of depression. Unlabeled indications include mild dementia-associated agitation in nonpsychotic patients, smoking cessation, ethanol abuse, obsessive-compulsive disorder (OCD) in children, and diabetic neuropathy.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Celexa, Lexapro

    Approx Detection Window: 12d

  • Sertraline

    Description: Sertraline hydrochloride belongs to a class of antidepressant agents known as selective serotonin-reuptake inhibitors (SSRIs). Despite distinct structural differences between compounds in this class, SSRIs possess similar pharmacological activity. As with other antidepressant agents, several weeks of therapy may be required before a clinical effect is seen. SSRIs are potent inhibitors of neuronal serotonin reuptake. They have little to no effect on norepinephrine or dopamine reuptake and do not antagonize α- or β-adrenergic, dopamine D2 or histamine H1 receptors. During acute use, SSRIs block serotonin reuptake and increase serotonin stimulation of somatodendritic 5-HT1A and terminal autoreceptors. Chronic use leads to desensitization of somatodendritic 5-HT1A and terminal autoreceptors. The overall clinical effect of increased mood and decreased anxiety is thought to be due to adaptive changes in neuronal function that leads to enhanced serotonergic neurotransmission. Side effects include dry mouth, nausea, dizziness, drowsiness, sexual dysfunction and headache (see Toxicity section below for a more detailed listing of side effects). Compared to other agents in this class, sertraline may cause greater diarrheal and male sexual dysfunction effects]. Sertraline displays a better safety or tolerability profile than other classes of antidepressants. Side effects generally occur within the first two weeks of therapy and are usually less severe and frequent than those observed with tricyclic antidepressants or monoamine oxidase inhibitors. Sertraline has shown therapeutic effectiveness as a treatment for major depressive disorder, obsessive-compulsive disorder (OCD), panic disorder, post-traumatic stress disorder (PTSD), premenstrual dysphoric disorder (PMDD) and social anxiety disorder (social phobia).

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Zoloft

    Approx Detection Window: 8d

  • Paroxetine

    Description: Paroxetine hydrochloride and paroxetine mesylate belong to a class of antidepressant agents known as selective serotonin-reuptake inhibitors (SSRIs). Despite distinct structural differences between compounds in this class, SSRIs possess similar pharmacological activity. As with other antidepressant agents, several weeks of therapy may be required before a clinical effect is seen. SSRIs are potent inhibitors of neuronal serotonin reuptake. They have little to no effect on norepinephrine or dopamine reuptake and do not antagonize ⍺- or β-adrenergic, dopamine D2 or histamine H1 receptors. During acute use, SSRIs block serotonin reuptake and increase serotonin stimulation of somatodendritic 5-HT1A and terminal autoreceptors. Chronic use leads to desensitization of somatodendritic 5-HT1A and terminal autoreceptors. The overall clinical effect of increased mood and decreased anxiety is thought to be due to adaptive changes in neuronal function that leads to enhanced serotonergic neurotransmission.

    Side effects include dry mouth, nausea, dizziness, drowsiness, sexual dysfunction and headache (see Toxicity section below for a complete listing of side effects). Side effects generally occur during the first two weeks of therapy and are usually less severe and frequent than those observed with tricyclic antidepressants. Paroxetine hydrochloride and mesylate are considered therapeutic alternatives rather than generic equivalents by the US Food and Drug Administration (FDA); both agents contain the same active moiety (i.e. paroxetine), but are formulated as different salt forms. Clinical studies establishing the efficacy of paroxetine in various conditions were performed using paroxetine hydrochloride. Since both agents contain the same active moiety, the clinical efficacy of both agents is thought to be similar. Paroxetine may be used to treat major depressive disorder (MDD), panic disorder with or without agoraphobia, obsessive-compulsive disorder (OCD), social anxiety disorder (social phobia), generalized anxiety disorder (GAD), post-traumatic stress disorder (PTSD) and premenstrual dysphoric disorder (PMDD). Paroxetine has the most evidence supporting its use for anxiety-related disorders of the SSRIs. It has the greatest anticholinergic activity of the agents in this class and compared to other SSRIs, paroxetine may cause greater weight gain, sexual dysfunction, sedation and constipation.

    Class: SSRI/SNRI

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Praxil

    Approx Detection Window: 14d

  • Trimipramine

    Description: Tricyclic antidepressant similar to imipramine, but with more antihistaminic and sedative properties. [PubChem].

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Surmontil

    Approx Detection Window: 2d

  • Protriptyline

    Description: Protriptyline hydrochloride is a dibenzocycloheptene-derivative tricyclic antidepressant (TCA). TCAs are structurally similar to phenothiazines. They contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, protriptyline does not affect mood or arousal, but may cause sedation. In depressed individuals, protriptyline exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. In addition, TCAs down-regulate cerebral cortical β-adrenergic receptors and sensitize post-synaptic serotonergic receptors with chronic use. The antidepressant effects of TCAs are thought to be due to an overall increase in serotonergic neurotransmission. TCAs also block histamine H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. See toxicity section below for a complete listing of side effects. Protriptyline may be used for the treatment of depression.

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Vivactil

    Approx Detection Window: 27d

  • Desmethyldoxepin

    Description: The active metabolite of the prodrug Doxepin.

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: (Doxepin metabolite)

    Approx Detection Window: 2-8d

  • Doxepin

    Description: Doxepin is a dibenzoxepin-derivative tricyclic antidepressant (TCA). Structurally similar to phenothiazines, TCAs contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, doxepin does not affect mood or arousal, but may cause sedation. In depressed individuals, doxepin exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. Tertiary amine TCAs, such as doxepin and amitriptyline, are more potent inhibitors of serotonin reuptake than secondary amine TCAs, such as nortriptyline and desipramine. TCAs also down-regulate cerebral cortical β-adrenergic receptors and sensitize post-synaptic serotonergic receptors with chronic use. The antidepressant effects of TCAs are thought to be due to an overall increase in serotonergic neurotransmission. TCAs also block histamine H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. Doxepin has less sedative and anticholinergic effects than amitriptyline. See toxicity section below for a complete listing of side effects. When orally administered, doxepin may be used to treat depression and insomnia. Unlabeled indications of oral doxepin also include chronic and neuropathic pain, and anxiety. Doxepin may also be used as a second line agent to treat idiopathic urticaria. As a topical agent, doxepin may be used relieve itching in patients with certain types of eczema. It may be used for the management of moderate pruritus in adult patients with atopic dermatitis or lichen simplex chronicus.

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Sinequan

    Approx Detection Window: 2-8d

  • Nortriptyline

    Description: Nortriptyline hydrochloride, the N-demethylated active metabolite of amitriptyline, is a dibenzocycloheptene-derivative tricyclic antidepressant (TCA). TCAs are structurally similar to phenothiazines. They contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, nortriptyline does not affect mood or arousal, but may cause sedation. In depressed individuals, nortriptyline exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. Secondary amine TCAs, such as nortriptyline, are more potent inhibitors of norepinephrine reuptake than tertiary amine TCAs, such as amitriptyline. TCAs also down-regulate cerebral cortical β-adrenergic receptors and sensitize post-synaptic serotonergic receptors with chronic use. The antidepressant effects of TCAs are thought to be due to an overall increase in serotonergic neurotransmission. TCAs also block histamine-H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. Compared to other TCAs, nortriptyline is less toxic and displays less drug interactions [6]. As a more selective noadrenaline reuptake inhibitor, nortriptyline is less likely associated with the hypertensive ‘cheese reaction']. Nortriptyline exerts less anticholinergic and sedative side effects compared to the tertiary amine TCAs, amitriptyline and clomipramine. Apart from its indication to treat depression, nortriptyline has been investigated in chronic neuropathic pain (unlabeled use), fibromyalgia, irritable bowel syndrome (unlabeled use), diabetic neuropathy (unlabeled use), post-traumatic stress disorder (unlabeled use), and migraine prophylaxis (unlabeled use).

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Pamelor

    Approx Detection Window: 10d

  • Amitriptyline

    Description: Amitriptyline hydrochloride is a dibenzocycloheptene-derivative tricyclic antidepressant (TCA) and analgesic. TCAs are structurally similar to phenothiazines. They contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, amitriptyline does not affect mood or arousal, but may cause sedation. In depressed individuals, amitriptyline exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. Tertiary amine TCAs, such as amitriptyline, are more potent inhibitors of serotonin reuptake than secondary amine TCAs, such as nortriptyline. TCAs also down-regulate cerebral cortical β-adrenergic receptors and sensitize post-synaptic serotonergic receptors with chronic use. The antidepressant effects of TCAs are thought to be due to an overall increase in serotonergic neurotransmission. TCAs also block histamine-H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. Amitriptyline may be used to treat depression, chronic pain (unlabeled use), irritable bowel syndrome (unlabeled use), diabetic neuropathy (unlabeled use), post-traumatic stress disorder (unlabeled use), and for migraine prophylaxis (unlabeled use).

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Elavil

    Approx Detection Window: 10d

  • Imipramine

    Description: Imipramine, the prototypical tricyclic antidepressant (TCA), is a dibenzazepine-derivative TCA. TCAs are structurally similar to phenothiazines. They contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, imipramine does not affect mood or arousal, but may cause sedation. In depressed individuals, imipramine exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. Tertiary amine TCAs, such as imipramine and amitriptyline, are more potent inhibitors of serotonin reuptake than secondary amine TCAs, such as nortriptyline and desipramine. TCAs also block histamine H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. Imipramine has less sedative and anticholinergic effects than the tertiary amine TCAs, amitriptyline and clomipramine. Imipramine may be used to treat depression and nocturnal enuresis in children. Unlabeled indications include chronic and neuropathic pain (including diabetic neuropathy), panic disorder, attention-deficit/hyperactivity disorder (ADHD), and post-traumatic stress disorder (PTSD).

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Tofranil

    Approx Detection Window: 5d

  • Desipramine

    Description: Desipramine hydrochloride is a dibenzazepine-derivative tricyclic antidepressant (TCA). TCAs are structurally similar to phenothiazines. They contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, desipramine does not affect mood or arousal, but may cause sedation. In depressed individuals, desipramine exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. Secondary amine TCAs, such as desipramine and nortriptyline, are more potent inhibitors of norepinephrine reuptake than tertiary amine TCAs, such as amitriptyline and doxepine. TCAs also down-regulate cerebral cortical β-adrenergic receptors and sensitize post-synaptic serotonergic receptors with chronic use. The antidepressant effects of TCAs are thought to be due to an overall increase in serotonergic neurotransmission. TCAs also block histamine-H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. See toxicity section below for a complete listing of side effects. Desipramine exerts less anticholinergic and sedative side effects compared to tertiary amine TCAs, such as amitriptyline and clomipramine. Desipramine may be used to treat depression, neuropathic pain (unlabeled use), agitation and insomnia (unlabeled use) and attention-deficit hyperactivity disorder (unlabeled use).

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Norpramin

    Approx Detection Window: 2-11d

  • Clomipramine

    Description: Clomipramine, the 3-chloro analog of imipramine, is a dibenzazepine-derivative tricyclic antidepressant (TCA). TCAs are structurally similar to phenothiazines. They contain a tricyclic ring system with an alkyl amine substituent on the central ring. In non-depressed individuals, clomipramine does not affect mood or arousal, but may cause sedation. In depressed individuals, clomipramine exerts a positive effect on mood. TCAs are potent inhibitors of serotonin and norepinephrine reuptake. Tertiary amine TCAs, such as clomipramine, are more potent inhibitors of serotonin reuptake than secondary amine TCAs, such as nortriptyline and desipramine. TCAs also down-regulate cerebral cortical β-adrenergic receptors and sensitize post-synaptic serotonergic receptors with chronic use. The antidepressant effects of TCAs are thought to be due to an overall increase in serotonergic neurotransmission. TCAs also block histamine-H1 receptors, α1-adrenergic receptors and muscarinic receptors, which accounts for their sedative, hypotensive and anticholinergic effects (e.g. blurred vision, dry mouth, constipation, urinary retention), respectively. See toxicity section below for a complete listing of side effects. Clomipramine may be used to treat obsessive-compulsive disorder and disorders with an obsessive-compulsive component (e.g. depression, schizophrenia, Tourette’s disorder). Unlabeled indications include panic disorder, chronic pain (e.g. central pain, idiopathic pain disorder, tension headache, diabetic peripheral neuropathy, neuropathic pain), cataplexy and associated narcolepsy, autistic disorder, trichotillomania, onchophagia, stuttering, premature ejaculation, and premenstrual syndrome. Clomipramine is rapidly absorbed from the gastrointestinal tract and demethylated in the liver to its primary active metabolite, desmethylclomipramine.

    Class: Tricyclic Antidepressants

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Anafranil

    Approx Detection Window: 144

  • Phentermine

    Description: A central nervous system stimulant and sympathomimetic with actions and uses similar to those of dextroamphetamine. It has been used most frequently in the treatment of obesity. [PubChem]. Some common brand names for phentermine are Adipex-P® and Suprenza™. Phentermine is also available in combination medications such as Qsymia®.

    Class: CNS Stimulants/ADHD

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Adipex-P, Suprenza

    Approx Detection Window: 5d

  • Methamphetamine

    Description: Methamphetamine is a psychostimulant and sympathomimetic drug. It is a member of the amphetamine group of sympathomimetic amines. Methamphetamine can induce effects such as euphoria, increased alertness and energy, and enhanced self-esteem. It is a scheduled drug in most countries due to its high potential for addiction and abuse.

    Class: CNS Stimulants/ADHD

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Desoxyn

    Approx Detection Window: 3d

  • Amphetamine

    Description: Amphetamines are non-catecholamine sympathomimetic amines with CNS stimulant activity. By mimicking the structures of the catecholamine neurotransmitters, noradrenaline and dopamine, amphetamines modulate monoamine release, reuptake, and signalling within the brain. Although "amphetamine" is used as a descriptor of its own structural class, amphetamine properly refers to a racemic free base composed of equal parts of its two optical antipodes: levo-amphetamine and dextro-amphetamine. Used in the past for the treatment of depression, stress, and for concentration improvement, it is currently available as a prescription drug for the treatment of attention hyperactivity disorder (ADHD), narcolepsy, and as an adjunct in the treatment of exogenous obesity. Amphetamine is also available in a mixed salt/mixed enantiomer form (Adderall), where d-amphetamine and l-amphetamine are available in a ratio of 3:1. It is also available in a prodrug form as lisdexamfetamine.

    Class: CNS Stimulants/ADHD

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Adderall, Vyvanse

    Approx Detection Window: 3d

  • Atomoxetine

    Description: Atomoxetine is the first non-stimulant drug approved for the treatment of attention-deficit hyperactivity disorder (ADHD). It is sold in the form of the hydrochloride salt of atomoxetine. This chemical is manufactured and marketed under the brand name Strattera; by Eli Lilly and Company and as a generic Attentin by Torrent Pharmaceuticals. There is currently no generic available within the United States due to patent restrictions.

    Class: CNS Stimulants/ADHD

    Category: Psychiatric

    Cutoff: 100

    Trade name/Street name: Strattera

    Approx Detection Window: 7d

  • Ritalinic Acid

    Description: A central nervous system stimulant used most commonly in the treatment of attention-deficit disorders in children and for narcolepsy. Its mechanisms appear to be similar to those of dextroamphetamine.

    Class: CNS Stimulants/ADHD

    Category: Psychiatric

    Cutoff: 50

    Trade name/Street name: Ritalin, Concerta

    Approx Detection Window: 4d

  • L-Thyroxine (T4)

    Description: The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosines (monoiodotyrosine) and the coupling of iodotyrosines (diiodotyrosine) in the thyroglobulin. Thyroxine is released from thyroglobulin by proteolysis and secreted into the blood. Thyroxine is peripherally deiodinated to form triiodothyronine which exerts a broad spectrum of stimulatory effects on cell metabolism.

    Class: Hormone

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Synthroid, Tirosint

    Approx Detection Window: 21d

  • Metformin

    Description: Metformin is a biguanide antihyperglycemic agent used for treating non-insulin-dependent diabetes mellitus (NIDDM). It improves glycemic control by decreasing hepatic glucose production, as well as decreasing glucose absorption and increasing insulin-mediated glucose uptake.

    Another well-known benefit of this drug is modest weight loss. Metformin is the drug of choice for obese NIDDM (non-insulin dependent diabetes mellitus) patients.

    Metformin was approved in Canada initially in 1972, the 1970s in Europe, and in 1995 in the USA.

    Class: Antidiabetic

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Fortamet

    Approx Detection Window: 5d

  • Digoxin

    Description: A cardiotonic glycoside obtained mainly from Digitalis lanata; it consists of three sugars and the aglycone digoxigenin. Digoxin has positive inotropic and negative chronotropic activity. It is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation. Its use in congestive heart failure and sinus rhythm is less certain. The margin between toxic and therapeutic doses is small.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Lanoxin, Digox

    Approx Detection Window: 3d

  • Carvedilol

    Description: Carvedilol is a non-selective beta blocker indicated in the treatment of mild to moderate congestive heart failure (CHF). It blocks beta-1 and beta-2 adrenergic receptors as well as the alpha-1 adrenergic receptors.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Coreg

    Approx Detection Window: 1d

  • Alpha-Hydroxymetoprolol

    Description: The active metabolite of the prodrug Metoprlol.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 50

    Trade name/Street name: (Metoprlol Meabolite)

    Approx Detection Window: 3d

  • Metoprolol

    Description: Metoprolol is a cardioselective β1-adrenergic blocking agent used for acute myocardial infarction (MI), heart failure, angina pectoris and mild to moderate hypertension. It may also be used for supraventricular and tachyarrhythmias and prophylaxis for migraine headaches. Metoprolol is structurally similar to bisoprolol, acebutolol and atenolol in that it has two substituents in the para position of the benzene ring. The β1-selectivity of these agents is thought to be due in part to the large substituents in the para position. At low doses, metoprolol selectively blocks cardiac β1-adrenergic receptors with little activity against β2-adrenergic receptors of the lungs and vascular smooth muscle. Receptor selectivity decreases with higher doses. Unlike propranolol and pindolol, metoprolol does not exhibit membrane-stabilizing or intrinsic sympathomimetic activity. Membrane-stabilizing effects are only observed at doses much higher than those needed for β-adrenergic blocking activity. Metoprolol possesses a single chiral centre and is administered as a racemic mixture.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Lopressor, Toprol

    Approx Detection Window: 3d

  • Propanolol

    Description: A widely used non-cardioselective beta-adrenergic antagonist. Propranolol is used in the treatment or prevention of many disorders including acute myocardial infarction, arrhythmias, angina pectoris, hypertension, hypertensive emergencies, hyperthyroidism, migraine, pheochromocytoma, menopause, and anxiety.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 50

    Trade name/Street name:

    Approx Detection Window:

  • Atenolol

    Description: A cardioselective beta-adrenergic blocker possessing properties and potency similar to propranolol, but without a negative inotropic effect.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Atenolol

    Approx Detection Window: 3d

  • N-Desethylamiodarone

    Description: An antianginal and antiarrhythmic drug. It increases the duration of ventricular and atrial muscle action by inhibiting Na,K-activated myocardial adenosine triphosphatase. There is a resulting decrease in heart rate and in vascular resistance.

    Class: Antiarrhythmic

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Cordarone, Nexterone

    Approx Detection Window: 3d

  • Rivaroxaban

    Description: Rivaroxaban is an anticoagulant and the first orally active direct factor Xa inhibitor. Unlike warfarin, routine lab monitoring of INR is not necessary. However there is no antidote available in the event of a major bleed. Only the 10 mg tablet can be taken without regard to food. The 15 mg and 20 mg tablet should be taken with food. FDA approved on July 1, 2011.

    Class: Anticoagulant

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Xarelto

    Approx Detection Window: 1d

  • Warfarin

    Description: Warfarin is an anticoagulant drug normally used to prevent blood clot formation as well as migration. Although originally marketed as a pesticide (d-Con, Rodex, among others), Warfarin has since become the most frequently prescribed oral anticoagulant in North America. Warfarin has several properties that should be noted when used medicinally, including its ability to cross the placental barrier during pregnancy which can result in fetal bleeding, spontaneous abortion, preterm birth, stillbirth, and neonatal death. Additional adverse effects such as necrosis, purple toe syndrome, osteoporosis, valve and artery calcification, and drug interactions have also been documented with warfarin use. Warfarin does not actually affect blood viscosity, rather, it inhibits vitamin-k dependent synthesis of biologically active forms of various clotting factors in addition to several regulatory factors.

    Class: Anticoagulant

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Coumadin

    Approx Detection Window: 7d

  • Clopidogrel COOH

    Description: The active metabolite of the prodrug Clopidogrel.

    Class: Anticoagulant

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Clopidogrel Metabolite

    Approx Detection Window: 4d

  • Clopidogrel

    Description: Clopidogrel, an antiplatelet agent structurally and pharmacologically similar to ticlopidine, is used to inhibit blood clots in a variety of conditions such as peripheral vascular disease, coronary artery disease, and cerebrovascular disease. Clopidogrel is sold under the name Plavix by Sanofi and Bristol-Myers Squibb. The drug is an irreversible inhibitor of the P2Y12 adenosine diphosphate receptor found on the membranes of platelet cells. Clopidogrel use is associated with several serious adverse drug reactions such as severe neutropenia, various forms of hemorrhage, and cardiovascular edema.

    Class: Anticoagulant

    Category: Cardiovasular/Metobolic

    Cutoff: 50

    Trade name/Street name: Plavix

    Approx Detection Window: 4d

  • 4-Hydroxyvalsartan

    Description: The active metabolite of the prodrug Valsartan.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Valsartan metabolite

    Approx Detection Window: 2d

  • Valsartan

    Description: Valsartan is an angiotensin-receptor blocker (ARB) that may be used to treat a variety of cardiac conditions including hypertension, diabetic nephropathy and heart failure. Valsartan lowers blood pressure by antagonizing the renin-angiotensin-aldosterone system (RAAS); it competes with angiotensin II for binding to the type-1 angiotensin II receptor (AT1) subtype and prevents the blood pressure increasing effects of angiotensin II. Unlike angiotensin-converting enzyme (ACE) inhibitors, ARBs do not have the adverse effect of dry cough. Valsartan may be used to treat hypertension, isolated systolic hypertension, left ventricular hypertrophy and diabetic nephropathy. It may also be used as an alternative agent for the treatment of heart failure, systolic dysfunction, myocardial infarction and coronary artery disease.

    Class: Antihypertensive

    Category: Cardiovasular/Metobolic

    Cutoff: 100

    Trade name/Street name: Diovan

    Approx Detection Window: 2d

  • 7-Hydroxymitragynine

    Description: The active metabolite of the prodrug Mitragynine.

    Class: Plant Alkaloid

    Category: OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: (Mitragynine metabolite)

    Approx Detection Window: 3d

  • Caffeine

    Description: A methylxanthine naturally occurring in some beverages and also used as a pharmacological agent. Caffeine's most notable pharmacological effect is as a central nervous system stimulant, increasing alertness and producing agitation. It also relaxes smooth muscle, stimulates cardiac muscle, stimulates diuresis, and appears to be useful in the treatment of some types of headache. Several cellular actions of caffeine have been observed, but it is not entirely clear how each contributes to its pharmacological profile. Among the most important are inhibition of cyclic nucleotide phosphodiesterases, antagonism of adenosine receptors, and modulation of intracellular calcium handling.

    Class: Plant Alkaloid

    Category:OTC/Supplement/Herbals

    Cutoff: 100

    Trade name/Street name: Diurex, Vivarin

    Approx Detection Window: 1-2d

  • Cotinine

    Description: Cotinine is an alkaloid found in tobacco and is also the predominant metabolite of nicotine. Cotinine is used as a biomarker for exposure to tobacco smoke. Cotinine is currently being studied as a treatment for depression, PTSD, schizophrenia, Alzheimer's disease and Parkinson's disease. Cotinine was developed as an antidepressant as a fumaric acid salt, cotinine fumarate, to be sold under the brand name Scotine but it was never marketed.

    Similarly to nicotine, cotinine binds to, activates, and desensitizes neuronal nicotinic acetylcholine receptors, though at much lower potency in comparison. It has demonstrated nootropic and antipsychotic-like effects in animal models. Cotinine treatment has also been shown to reduce depression, anxiety, and fear-related behavior as well as memory impairment in animal models of depression, PTSD, and Alzheimer's disease. Nonetheless, treatment with cotinine in humans was reported to have no significant physiologic, subjective, or performance effects in one study, though others suggest that this may not be the case

    Because cotinine is the main metabolite to nicotine and has been shown to be pharmacologically active, it has been suggested that some of nicotine's effects in the nervous system may be mediated by cotinine and/or complex interactions with nicotine itself.

    Class: Plant Alkaloid

    Category: OTC/Supplement/Herbals

    Cutoff: 200

    Trade name/Street name: (Nicotine metabolite)

    Approx Detection Window: 4d

  • PRIP1

    The PRIP gene family provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues. PRIP-1 is expressed predominantly in the brain. Mutations in this gene are known to be associated with Huntington’s disease, familial forms of prion disease, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI), and Wilson disease.

  • MRE11

    This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. Mutations in this gene are known to be associated with Ataxia-telangiectasia-like disorder 1 (ATLD1), a rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. Preliminary research also shows correlation between mutations in this gene and breast

  • APOB

    The APOB gene provides instructions for making two versions of the apolipoprotein B protein, a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Mutations in this gene are known to be associated with familial hypobetalipoproteinemia (FHBL), a disorder that impairs the body's ability to absorb and transport fat, and a form of inherited hypercholesterolemia called familial defective apolipoprotein B-100 (FDB).

  • LDLR

    The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood. Mutations in this gene are known to be associated with an inherited form of high cholesterol called familial hypercholesterolemia.

  • LDLRAP1

    The LDLRAP1 gene provides instructions for making a protein that helps remove cholesterol from the bloodstream. Mutations in this gene have been known to be associated with a form of inherited high cholesterol called autosomal recessive hypercholesterolemia.