Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individually validated variants and variants previously confirmed in a first-degree relative.
To demonstrate that Invitae's analysis provides high-quality results, we validated both our analytic results and our clinical interpretations through collaborations with Massachusetts General Hospital, Harvard Medical School, Stanford University, and Beth Israel Deaconess Medical Center. The results demonstrate 100 percent analytic sensitivity and specificity for Invitae’s panel compared to traditional genetic test results. To learn more about these studies, please visit our Validation Studies page.
Our analysis detects most 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. If you are requesting the detection of a specific single-exon copy number variation, please contact Invitae Client Services before placing your order.
Invitae uses a proprietary, validated algorithm to detect deletions and duplications using NGS. The algorithm calls exonic deletions and duplications by calculating the statistical likelihood of each copy number state by comparing depth of sequence coverage at targeted exons to depth measured from a set of baseline samples.
Our team of genetic counselors, medical geneticists, and scientists works together to provide you with a curated genetic testing menu and clinically-relevant test results.
To learn more about Invitae's method of variant classification, please visit our Variant Classification page.