New Test Uses RNA to Expand Diagnostic Yield of Exome Sequencing

Rare Daily Staff

Clinical genomics testing company Ambry Genetics has released ExomeReveal, a new multiomic exome sequencing test designed to improve rare disease detection compared with conventional DNA-based exome sequencing.

Exome sequencing, which analyzes the coding regions of genomic DNA, is typically used to diagnose children with congenital birth defects, intellectual disability, and neurodevelopmental disorders, such as autism spectrum disorder and epilepsy.

Ambry said its 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.

Through this testing, about 5 percent 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, Ambry said.

Patients receiving the ExomeReveal test are automatically enrolled in the Ambry Patient for Life program, which provides another 5 percent of patients with answers over time based on emerging science through continuous, laboratory-driven exome reanalysis.

The ExomeReveal test is performed in Ambry Genetics’ CLIA-certified laboratory. The test is available for order and is offered at no additional cost to the patient.

“Every diagnosis matters to patients and families experiencing the rare disease diagnostic odyssey,” said Elizabeth Chao, 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.”

Photo: Elizabeth Chao, chief medical officer at Ambry Genetics