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

Ambry Genetics, a leader in clinical genomic testing, and now a wholly owned subsidiary of Tempus AI, Inc. announced the completion of its one-millionth DNA/RNA test, underscoring the company’s commitment to diagnostic accuracy. A decade ago, in an industry first, Ambry Genetics pioneered paired DNA/RNA testing for hereditary cancer and continues to be among the only laboratories offering RNA testing insights across both hereditary cancer and exome testing.

Ambry Genetics first implemented RNA testing in 2016 as part of a research and validation pilot and subsequently launched it commercially in 2019 as +RNAinsight. This advancement transformed hereditary cancer testing by enabling the identification of deep intronic pathogenic variants and the resolution of many uncertain variants. Analysis of data from over 450,000 patients tested with +RNAinsight showed that 1 in 25 positive patients would have been missed without the inclusion of RNA data.1 In addition, the inclusion of RNA leads to a 6% reduction in variants classified as uncertain.1 Overall, integrating RNA with DNA testing gives clinicians and their patients clearer answers about hereditary cancer risk.²

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 Tom Schoenherr, CEO of Ambry Genetics. “Reaching one million RNA samples isn’t just a number, it represents a million people who benefitted from potentially deeper insights into their genetics; helping pinpoint risks sooner, make more informed decisions, and intervene confidently.”

"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 Huma Q. Rana, MD, MPH, Clinical Director of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute, and Assistant Professor of Medicine at Harvard Medical School.

About Ambry Genetics
Ambry Genetics, a wholly owned subsidiary of Tempus, translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing and aims to improve health by understanding the relationship between genetics and disease. Over its 25-year history, Ambry has remained committed to empowering patients to make informed healthcare decisions based on their genetic data.

^1. Horton C, et al. Oral Presentation Session 84, ASHG 2024; Denver, CO

^2. Ambry Genetics. Ambry Genetics makes scientific breakthrough and launches paired RNA and DNA testing for hereditary cancer. Published October 1, 2019. Accessed January 20, 2026. https://www.ambrygen.com/company/press-release/118/ambry-genetics-makes-scientific-breakthrough-and-launches-paired-rna-and-dna-testing-for-hereditary-cancer

^3. Ambry Genetics. Ambry Genetics announces new multiomic exome test for improved rare disease detection. Published August 19, 2024. Accessed January 20, 2026. https://www.ambrygen.com/company/press-release/150/ambry-genetics-announces-new-multiomic-exome-test-for-improved-rare-disease-detection