Ambry exome sequencing test found to diagnose genetic disorders

1 March 2012 (Last Updated March 1st, 2012 18:30)

Ambry Genetics has reported beneficial results from its Clinical Diagnostic Exome testing, used to diagnose individuals with genetic disorders.

Ambry Genetics has reported beneficial results from its Clinical Diagnostic Exome testing, used to diagnose individuals with genetic disorders.

Exome sequencing testing offers a cost and time effective method to diagnose genetic diseases that are associated with multiple genes for which limited testing and / or no comprehensive panels are available.

Using the company's clinical diagnostic exome testing, four individuals with rare genetic conditions who could not be previously identified were successfully diagnosed, at the Kennedy Krieger Institute in Baltimore, US, and Ivy League-affiliated university hospital in New York City.

In one of the cases at the Kennedy Krieger Institute, the exome sequencing test revealed that the patient's condition is a form of autosomal recessive intellectual disability caused by mutations in the ELP2 gene.

Ambry Genetics chief executive officer Charles Dunlop said the company is the first CLIA-certified lab to provide whole exome sequencing and deliver actionable results from an exome test.

"Our clinical diagnostic exome test is now available to clinicians and their patients across the country and is already covered by some national health insurance carriers," Dunlop added.

Ambry Genetics assistant medical director Elizabeth Chao said they look forward to documenting the patient-specific results further, and to conducting additional tests in coming months.

The test will quickly identify the causes of a wide range of genetic disorders that previously have gone undiagnosed by targeting the exons of nearly all genes, unlike the traditional genetic testing that analyses only one or a few specific genes at a time, the company said.

Ambry Genetics is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified commercial clinical laboratory, focused on clinical diagnostics and genomic services, particularly in sequencing and array services.