Invitae confirms clinically significant findings using orthogonal technologies including Sanger sequencing, PacBio long read sequencing, aCGH, and MLPA.
Additionally, Invitae confirms any reported CNV event by performing aCGH with a custom designed exon-focused microarray. This is the industry standard technique for these events.
We encourage you to ask other testing providers if they confirm all variants and, if so, ask for a description of their complete process.Read the whitepaper
PMS2 (exons 12–15) and PMS2CL (exons 3–6) sequences are almost exactly the same, making it very difficult to tell if a variant is in the gene or the pseudogene using conventional methods (e.g., Sanger sequencing, microarray, NGS).
At Invitae, we recognize the importance of identifying these variants correctly to avoid missing or incorrectly diagnosing Lynch syndrome cases. Invitae’s approach to evaluating exons 12–15 of PMS2 is a two-step process for read-through variants and a three-step process for deletions and duplications:
This gold standard approach ensures accurate analysis. Having reliable mutation detection for PMS2 is important not only in Lynch syndrome families, but in all testing for hereditary cancer predisposition. Learn more >
Invitae submits all clinically reported variants, their classifications (i.e., pathogenic, benign, VUS, etc.) and the underlying evidence for and against pathogenicity to ClinVar. The sharing of data through ClinVar is unique in that it allows ongoing:
No other mechanism, including published scientific papers, solves these important problems. We encourage you to ask other testing providers if they share all variants, classifications and evidence to public databases. Learn more >