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 and other non-coding sequence positions containing select known pathogenic variants. Deletion/duplication analysis is not performed for all genes in our catalog. For some genes, analysis may be limited to specific exons or targeted variants. Download our gene list for a complete list of the genes in our catalog with details on the analysis of each.
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. Rarely however, single-exon duplication events may be missed due to inherent sequence properties or isolated reduction in data quality.
All reported deletions or duplications are confirmed with alternative methods of analysis.
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.