Ambry Genetics: ExomeReveal

Ambry Genetics has launched the ExomeReveal multiomic exome sequencing test for rare disease detection. According to the Aliso Viejo, California-based firm, the test improves such detection compared with conventional DNA-based exome sequencing by including RNA analysis of qualified splicing variants that cannot be classified from DNA alone. Inclusion of RNA analysis allows the ExomeReveal test to provide insights into variants of unknown significance, Ambry said. In early-access assessments of the assay, approximately 5 percent of exome-sequencing cases were referred for RNA analysis based on initial DNA results, while clinically meaningful results were reported for about 2 percent of patients, the company said. The test is performed at Ambry's CAP-accredited, CLIA-certified and New York state-approved laboratory.