Ambry Genetics Announces One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield
Milestone highlights growing adoption of DNA and RNA-informed diagnostics for hereditary cancer and rare disease
The addition of RNA data has also improved equity of genetic test results. By leveraging functional evidence to address longstanding data gaps, RNA analysis had a significantly greater impact on variant classification and reclassifications in non-White patients. 1
Recognizing the value of RNA information in variant classification, Ambry subsequently added RNA testing to its ExomeReveal® offering in 2024, helping to improve diagnostic yield in suspected rare disease cases. 3
“Our mission has always been to bring clarity and actionable answers to patients and their families, and advance precision in genetic testing,” said
"Combining DNA and RNA provides an extra level of evidence to discover new variants and resolve ambiguity. I’ve seen this innovation clarify diagnoses and change management for my own patients," said
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1 Horton C, et al. Oral Presentation Session 84, ASHG 2024; |
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