A new gold standard in genetic testing

We believe today's gold standard includes both high quality testing and a dedication to improving medicine by sharing data.

Our philosophy

Invitae’s philosophy is to combine thoroughly validated analysis with a dedication to submitting our variant interpretations into the public domain for expert review and consensus.

 

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Invitae’s mission is to make high-quality genetic testing affordable and accessible. Our commitment to you and your patients includes:

  • Quality testing backed by peer-reviewed studies showing 100% analytic sensitivity and specificity compared to historical hereditary cancer genetic testing laboratories. View our validation studies >

  • Actionable menu including guidelines-based panels, STAT turnaround time panels, and the ability to customize panels. View our test catalog >

  • Ongoing contributions to both ClinVar and patient registries. Learn more >

  • Dedicated support programs including Clinical Consult, CancerCHECK, and the Genetics Provider Network to ensure responsible medicine. Learn more >

  • Simple pricing and billing, offering the same low price for any genetic test or genes—including re-requisition—within a single clinical area. View our transparent pricing >

Variant confirmation

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.

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PMS2 - technically challenging, clinically critical

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:

  • Sequence (read through) variants in exons 12-15
    • Step 1: NGS screen to identify non-benign variants
    • Step 2: Long range PCR and Sanger sequencing
  • Deletions/duplications
    • Step 1: NGS screen to identify non-benign variants
    • Step 2: Confirm NGS data with MPLA
    • Step 3: Long range PCR and Sanger sequencing

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 >

Data sharing

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:

  • inter-laboratory quality control
  • detailed peer review of variant classifications
  • consensus classification by the global community of experts

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 >

Does the testing you provide your patients meet a high standard of excellence?