Superior Variant Resolution

Variants of unknown significance (VUS) can make it difficult for healthcare providers to deliver clear test results to their patients. Ambry's best-in-class variant assessment program is dedicated to resolving VUS to give you and your patients clarity.

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Expert Variant Assessment Team

Our reporting, variant, and translational genomics teams bring >120 years of combined experience giving your patient the best chance at getting clarification of uncertain results.

Ambry’s scientists are actively involved with international variant experts, collaborators, and clinicians, to share data and enhance our understanding of variants worldwide.

Ambry’s Translational Genomics (ATG) Lab

Ambry is the only laboratory to provide complimentary studies that produce novel evidence to reduce variants of unknown significance (VUS) so that you can provide clear results to patients.

We offer specialized studies, such as targeted RNA analysis of splicing variants and RNA/DNA tandem analysis, providing the necessary data points to better define whether a VUS is benign (normal variation) or pathogenic (disease-causing).

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RNA Genetic Testing Decreases Variants of Unknown Significance 20 0 N=64 variants impacting 504 patients % of variants tested in ATG lab 100 80 60 40 Classification Pre-RNATesting Post-RNATesting 87.5% 12.5% 35.9% 14.1% 43.8% 6.2% Pathogenic Variant, likely pathogenic Variant, Unknown Significance Variant, likely benign

Industry-Leading Database

Over 1.5 million tests completed means a large database to leverage for test optimization and variant assessment.

Sample for Life

Continued review of variants enabled us to reclassify > 650 variants in 2017 alone, bringing further clarity to patients and families who may have received a VUS result.

Family Studies Program

Follow-up testing of appropriate family members which can provide additional, powerful information to aid in VUS resolution.

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