Ambry Genetics Announces One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield

Key Terms

rna medical

RNA (ribonucleic acid) is a natural molecule that carries instructions from a cell’s DNA to make proteins and can also act as a tool to turn genes on or off; think of it as a messenger or software that tells biological machinery what to build or modify. It matters to investors because RNA-based tests and therapies can create new markets or change treatment costs and regulatory risk, so progress or setbacks in RNA science often drive valuation swings in biotech companies.

dna medical

DNA is the molecule that carries the genetic instructions for living organisms—think of it as a biological blueprint or instruction manual for cells. For investors, DNA matters because many medical tests, biotech treatments, and diagnostic products depend on reading, modifying or targeting these instructions; breakthroughs, patents, regulatory approvals, or safety issues tied to DNA-based technologies can drive a company’s revenue, costs and risk profile much like a key engine part determines a car’s performance.

hereditary cancer medical

Hereditary cancer is cancer that arises because a person inherited a change in a gene from a parent that significantly raises their lifetime risk of developing certain tumors. Think of it as a faulty blueprint passed down in a family, making some people more likely to get specific cancers than the general population. For investors, hereditary cancer matters because it shapes demand for genetic testing, targeted drugs and preventive care, influences clinical trial design and regulatory review, and helps estimate the size and durability of related markets.

exome medical

The exome is the portion of an organism’s genetic code that carries the instructions for making proteins — like the highlighted pages in a huge instruction manual that contain the actual recipes. It matters to investors because many genetic tests, drug targets and diagnostics focus on these protein-making instructions; finding disease-linked changes there can speed development of treatments, reduce research costs, and drive commercial value.

pathogenic variants medical

Pathogenic variants are changes in a person’s DNA that are known to cause or significantly increase the risk of disease, like a typo in an instruction manual that breaks how a machine works. They matter to investors because identifying these changes drives demand for diagnostic tests, targeted therapies and genetic screening services, influences who can benefit from a drug in trials, and affects regulatory approval, market size and reimbursement risk for healthcare products.

variants medical

Variants are versions of a biological agent—most often a virus—that have small genetic differences from an original strain, like recipe tweaks that change flavor or behavior. For investors, variants matter because they can alter disease spread, severity, or how well diagnostics, treatments and vaccines work, which in turn can affect healthcare demand, regulatory actions, company revenues and market sentiment.

Milestone highlights growing adoption of DNA and RNA-informed diagnostics for hereditary cancer and rare disease

ALISO VIEJO, Calif.--(BUSINESS WIRE)-- Ambry Genetics, a leader in clinical genomic testing, and now a wholly owned subsidiary of Tempus AI, Inc. (NASDAQ: TEM), 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.

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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

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.

About TEMPUS®

Tempus is a technology company advancing precision medicine through the practical application of artificial intelligence in healthcare. With one of the world’s largest libraries of multimodal data, and an operating system to make that data accessible and useful, Tempus provides AI-enabled precision medicine solutions to physicians to deliver personalized patient care and in parallel facilitates discovery, development and delivery of optimal therapeutics. The goal is for each patient to benefit from the treatment of others who came before by providing physicians with tools that learn as the company gathers more data. For more information, visit tempus.com.

FORWARD LOOKING STATEMENTS

This press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended (the “Securities Act”), and Section 21E of the Securities Exchange Act of 1934, as amended, about Tempus and Tempus’ industry that involve substantial risks and uncertainties. All statements other than statements of historical facts contained in this press release are forward-looking statements, including, but not limited to, statements regarding the potential impact of Ambry Genetics research and publications; the contributions of Ambry Genetics research and findings to the larger scientific community and the use of its products and services to advance clinical care for patients are forward-looking statements. In some cases, you can identify forward-looking statements because they contain words such as “anticipate,” “believe,” “contemplate,” “continue,” “could,” “estimate,” “expect,” “going to,” “intend,” “may,” “plan,” “potential,” “predict,” “project,” “should,” “target,” “will,” or “would” or the negative of these words or other similar terms or expressions. Tempus cautions you that the foregoing may not include all of the forward-looking statements made in this press release.

You should not rely on forward-looking statements as predictions of future events. Tempus has based the forward-looking statements contained in this press release primarily on its current expectations and projections about future events and trends that it believes may affect Tempus’ business, financial condition, results of operations and prospects. These forward-looking statements are subject to risks and uncertainties related to: Tempus’ financial performance; the ability to attract and retain customers and partners; managing Tempus’ growth and future expenses; competition and new market entrants; compliance with new laws, regulations and executive actions, including any evolving regulations in the artificial intelligence space; the ability to maintain, protect and enhance Tempus’ intellectual property; the ability to attract and retain qualified team members and key personnel; the ability to repay or refinance outstanding debt, or to access additional financing; future acquisitions, divestitures or investments; the potential adverse impact of climate change, natural disasters, health epidemics, macroeconomic conditions, and war or other armed conflict, as well as risks, uncertainties, and other factors described in the section titled “Risk Factors” in Tempus’ Annual Report on Form 10-K for the year ended December 31, 2024, filed with the Securities and Exchange Commission (“SEC”) on February 24, 2025, as well as in other filings Tempus may make with the SEC in the future. In addition, any forward-looking statements contained in this press release are based on assumptions that Tempus believes to be reasonable as of this date. Tempus undertakes no obligation to update any forward-looking statements to reflect events or circumstances after the date of this press release or to reflect new information or the occurrence of unanticipated events, except as required by law.

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Source: Ambry Genetics