LabSolutions's assay for panel and single gene tests includes both full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Direct sequencing of the amplified captured regions was performed using 2X100bp reads on Illumina next-generation sequencing (NGS) systems. A base is considered to have sufficient coverage at 20X and anexon is considered fully covered if all coding bases plus three nucleotides of flanking sequence on either side are covered at 20X or more. Any variants that fall outside these regions are not analyzed. For some genes, analysis may extend to the promoter region, including additional intronic variants, or be limited to targeted variants or exons. To find details, search for a specific gene or test. Genomic DNA is extracted and enriched for the targeted gene regions using a proprietary targeted capture system. Variants are called at a minimum coverage of 8X and an alternate allele frequency of 20% or higher. Single nucleotide variants (SNVs) meeting internal quality assessment guidelines are confirmed by Sanger sequence analysis for records after results are reported. Indels, and SNVs at director discretion, are confirmed by Sanger sequence analysis before reporting.
Using well established confirmatory technologies, LabSolutions confirms all clinically significant findings that do not meet stringent NGS quality metrics.