ExomeReveal™ test expands Ambry Genetics’ clinical exome capabilities and applies its RNA analysis expertise to rare disease testing

Ambry Genetics, a leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., today announced the ExomeReveal™ test, a new multiomic exome sequencing test designed to improve rare disease detection compared with conventional DNA-based exome sequencing. The ExomeReveal test brings Ambry Genetics’ extensive experience in RNA analysis, honed through its hereditary cancer testing portfolio, to its ExomeNext® exome sequencing test, to improve diagnostic yield for rare diseases.

The term “rare disease” comprises more than 7,000 diseases affecting fewer than 200,000 Americans each, which are collectively believed to affect a total of 25 million to 30 million Americans.¹ Exome sequencing – which interrogates the coding regions of genomic DNA – is typically indicated for evaluation of children with congenital birth defects, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorder and epilepsy. The ExomeReveal test goes beyond DNA sequencing to include RNA analysis of qualified splicing variants that cannot be classified from DNA alone. By adding RNA functional studies, the ExomeReveal test can resolve variants of uncertain significance and deliver answers to more patients than standard DNA-based testing.

“Every diagnosis matters to patients and families experiencing the rare disease diagnostic odyssey,” said Elizabeth Chao, M.D., Chief Medical Officer at Ambry Genetics. “By adding RNA analysis capabilities to our exome sequencing test, we will be able to identify the cause of rare disease in more patients, enabling better medical care and the potential for new treatment options.”

The team at Ambry Genetics has extensively validated the ExomeReveal test protocol through an early access program. Through this testing, about 5% of exome sequencing cases were referred for RNA analysis based on initial DNA results, and clinically meaningful results were reported for about 1 in 50 patients. Further, patients receiving the ExomeReveal test are automatically enrolled in the Ambry Patient for Life™ program, which provides another 5% of patients with answers over time based on emerging science through continuous, laboratory-driven exome reanalysis.

“As the first company to pioneer commercial exome testing in 2011 to today, Ambry Genetics has always been on the forefront of applying the latest scientific evidence to the identification of genetic causes of rare diseases,” said Tom Schoenherr, Chief Executive Officer at Ambry Genetics. “The ExomeReveal test is the most recent example of our company’s commitment to innovation, and our investment in providing patients with the most comprehensive clinical genomics tests available.”

The ExomeReveal test is performed in Ambry Genetics CAP-accredited, CLIA-certified and New York State approved laboratory. The test is available for order and is offered at no additional cost to the patient. For more information about clinical exome testing from Ambry Genetics, visit www.ambrygen.com/exome.

¹ “Rare Disease Facts & Statistics,” National Organization for Rare Disorders. Available: https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/.

ABOUT AMBRY GENETICS®

Ambry Genetics, a subsidiary of REALM IDx, Inc., 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 that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate, and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

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