Invitae quality

Our 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 bring high-quality genetic testing into mainstream medical practice. Our commitment to quality 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 >

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

  • Meeting and exceeding standards for accreditation at national and state levels, including College of American Pathologists (CAP) accreditation and Clinical Laboratory Improvement Amendments (CLIA) certification. Learn more >

Variant classification

Invitae’s variant classifications are based on a rigorous, logical, and reproducible assessment of available evidence. Our method of variant interpretation enables us to be comprehensive in our review of the available literature and evidence, transparent in our logic and our conclusions, and clear in our explanations.

Our systematic process adheres closely to the recommendations from the American College of Medical Genetics (ACMG) and was published in Genetics in Medicine, the official journal of ACMG. It represents the industry standard among clinical genetic testing laboratories.

In addition, Invitae’s state-of-the-art Functional Modeling Platform (FMP) provides clarity for patients with variants of uncertain significance (VUS). By pulling in many lines of evidence from both lab experiments and computational analyses, FMP can accurately predict how some VUS will affect gene function. For 1 in 40 (or 2.5%) of Invitae patients, that means we can provide a more definitive variant classification (benign, likely benign, likely pathogenic, or pathogenic), rather than a VUS. Learn more >

Variant confirmation

Invitae confirms clinically significant findings that do not meet our stringent NGS quality metrics, using orthogonal technologies including 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.

Additionally, Invitae confirms CNV events by performing aCGH with a custom designed exon-focused microarray. This is the industry standard technique for these events.

Sensitivity and coverage

Diagnostic genetic testing requires a carefully constructed assay to thoroughly interrogate genes of medical importance. Invitae’s assays comprehensively report sequence changes and deletion/duplication events in coding exons, splice sites, and other regions known to harbor pathogenic mutations.

Del/dup events account for a significant proportion of pathogenic changes in hereditary disorders. Other commercially available gene panels and standard exome sequencing approaches do not always include del/dup testing or may have significant limitations, which can result in missing an important genetic change. 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?