Genetic Test Screens for Severe Disorders Affecting Newborns

A genetic test screens for some of the most common and severe genetic disorders affecting newborns in pan-ethnic populations.

Designed by a team of geneticists and genetic counselors with many years of clinical and laboratory experience, AmbryScreen is a responsible and ethical method of identifying individuals at high risk of having a child with severe genetic conditions.

Ambry Genetics (Aliso Viejo, CA, USA) introduced AmbryScreen at the American College of Obstetricians and Gynecologists annual clinical meeting in San Francisco (CA, USA) between May 15—19, 2010. 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