Ambry Genetics, a clinical genomic testing firm and a subsidiary of REALM IDx, has unveiled the ExomeReveal test for rare diseases.
ExomeReveal is a multiomic exome sequencing test designed to enhance rare disease detection beyond traditional DNA-based exome sequencing methods.
It combines Ambry Genetics’ deep expertise in RNA analysis, developed through its hereditary cancer testing offerings, with the ExomeNext exome sequencing test.
Exome sequencing, which focuses on the coding regions of genomic DNA, is used to assess children with congenital birth defects, intellectual disabilities, and neurodevelopmental disorders like autism spectrum disorder and epilepsy.
The ExomeReveal test incorporates RNA analysis, specifically targeting splicing variants that DNA alone cannot fully classify.
With the addition of RNA functional studies, the test enhances the ability to interpret variants of uncertain significance, providing answers to more patients compared to standard DNA-based testing.
Ambry Genetics CEO Tom Schoenherr said: “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.
“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.”
Ambry Genetics has validated the ExomeReveal test protocol through an early access programme.
The validation revealed that approximately 5% of exome sequencing cases required RNA analysis based on initial DNA findings, with clinically significant results identified in about one in 50 patients.
Additionally, patients who undergo the ExomeReveal test are automatically enrolled in the Ambry Patient for Life programme.
The programme ensures that another 5% of patients receive updated answers over time as new scientific insights emerge and through ongoing, lab-driven exome reanalysis.
The test is conducted in Ambry Genetics’ CAP-accredited, CLIA-certified, and New York State-approved laboratory. It is available for order and comes at no additional cost to the patient.
In March this year, Ambry Genetics partnered with Tempus to offer comprehensive, germline and somatic testing services using the former’s CancerNext and CancerNext-Expanded assays.
