Ambry Genetics Reports Results from Clinical Diagnostic Exome™ Testing of Three Patients

“This marks a pivotal moment for clinical diagnostics,” said Charles Dunlop, chief executive officer of Ambry Genetics. “A full diagnostic exome test with a high percentage of diagnosis is potentially a game changer for how clinicians approach diagnostics.  Some of these families have been trying to figure out what was ailing their children for years, and we solved the riddle in weeks. Our exome test is being covered by major national health insurance carriers, making it available to much of the population.  We will be able to help many people suffering from undiagnosed conditions, and nothing makes me more thrilled as a scientist and chief executive."

Ambry Genetics was the first CLIA-certified laboratory to offer whole exome sequencing for clinical diagnostics, and the company believes that its Clinical Diagnostic Exome test is the first to deliver clinical results.  

Wenqi Zeng, PhD., director of clinical genomics at Ambry Genetics added additional perspective, “We’re now finding the cause of the disease much faster because we are able to look into the patients blueprint. This is essentially a human genome project for an individual patient.”

“The Clinical Diagnostic Exome offers hope to those suffering from previously-undiagnosed conditions,” said Elizabeth Chao, M.D., assistant medical director of Ambry Genetics. “We anticipate being able to share more details about these specific cases in the coming weeks.”