Quality Testing

Assay coverage

Our partner laboratory is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory, offering panel and single gene genetic tests as well as exome analysis.

Panels and genes

Our partner laboratory’s assay for panel and single gene tests includes both full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

– Full-gene sequencing: Covers clinically important regions of each gene including coding exons, 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons, and select noncoding variants. Any variants that fall outside these regions are not analyzed. For some genes, analysis may extend to the promoter region, include additional intronic variants, or be limited to targeted variants or exons.

– Deletion/duplication analysis: Detects intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.

– Coverage: Provides an average coverage depth of at least 350x.

– Confirmation: Using orthogonal technologies, Our partner laboratory confirms clinically all significant findings that do not meet stringent NGS quality metrics.

RNA testing

Our partner laboratory has incorporated supplemental RNA testing into the variant classification process for variants of uncertain significance (VUS). We will be analyzing VUS that are predicted to affect splicing and have been identified in a gene from any of our hereditary cancer panels.   An amended report may be issued if the supplemental RNA data contributes to a reclassification of a VUS in your patient’s report. As always, we are dedicated to utilizing the very latest variant interpretation techniques to better understand the clinical impact of each variant identified by our genetic tests.