Genetic Test Screens for Severe Disorders Affecting Newborns

The assay screens for over 90 childhood onset conditions and is performed by Ambry Genetics. The core of the test is the most sensitive cystic fibrosis (CF) carrier mutation panel on the market.

The assay was designed by coupling the public databases of information with Ambry's database of over 25,000 patients sequenced during the last decade. The 100 CF mutation panel includes only well-defined disease causing mutations, without containing mild CF mutations like some currently used tests.

Ambry Genetics is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified commercial clinical laboratory. It has become a leader in providing genetic services focused on clinical diagnostics and genomic services.

Related Links:
Ambry Genetics
College of American Pathologists