Leading with quality: variant confirmation

There’s a lot of confusion out there around variant confirmation processes and how various labs conduct confirmation. Along with the confusion often comes misinformation. Did you know that Invitae uses multiple orthogonal technologies to confirm clinically significant findings? We’re dedicated to the highest quality genetic testing and back our testing with the very latest methodologies and technologies.

What is Invitae’s approach to variant confirmation?
Invitae confirms clinically significant findings that do not meet stringent NGS quality metrics. The confirmation techniques we use include Sanger sequencing, PacBio long read sequencing, aCGH (array comparative genome hybridization), and MLPA (multiplex ligation-dependent probe amplification). To guard against false negative results, Invitae runs multiple overlapping assays to redundantly target each variant.

To date we’ve performed confirmation on approximately 8,000 SNVs and small indels, and over 1,000 copy number variants.

For more detailed information, read the whitepaper

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.

The latest information on our current confirmation policies can be found in our online FAQ.

What’s the clinical impact?
You and your patient can have the peace of mind that you are getting the most accurate results possible. We use multiple orthogonal technologies to ensure accuracy. We are committed to maintaining the highest quality, while continually improving our processes in a responsible and data driven manner.

Test your testing provider
We encourage you to test your testing provider by asking:

  • Do they confirm clinically significant variants?
  • Are the confirmation policies transparent and well documented?
  • Are they transparent when orthogonal confirmation technologies fail to produce a convincing result?

For additional questions to ask your testing provider, view our webinar How to test a test.

If you have any questions about Invitae’s approach to testing and confirmation—or about our overall dedication to high quality testing—please don’t hesitate to contact your regional manager or Client Services.