Molecular Test for Cystic Fibrosis

A new molecular genetic test that brings simplicity and speed to genetic testing is designed for the detection of mutations in the gene associated with cystic fibrosis (CF).

CF is one of the most common genetic disorders in Caucasian populations, carried by about one in 29 individuals. The American College of Obstetrics and Gynecology (ACOG) now recommends that obstetrician-gynecologists make DNA screening for CF available to all couples seeking preconception or prenatal care, not just those with a personal or family history of carrying the CF gene, as previously recommended.

The Signature CF 2.0 ASR (analyte-specific reagent), adapted for a bead array platform, can be used to identify 25 mutations and six variants of the CF transmembrane-conductance regulator (CFTR) gene. These mutations represent the most common genetic mutations in North America. The test was developed by Ambion Diagnostics, a division of Ambion, Inc. (Austin, TX, USA). The company has announced the adoption of the test by the Blood Center of Southeastern Wisconsin (Milwaukee, USA), a multifaceted, world-renowned organization focused on diagnostic testing, blood collection, treatment, and research. The center's diagnostic laboratories develop and perform highly specialized tests on patient samples from around the world.

"Ambion Diagnostics' Signature CF 2.0 ASR has a reliable, rapid and easy-to-use format that will enable us to deliver outstanding service to the patients that we serve,” observed Daniel Bellissimo, Ph.D., director of the molecular diagnostic laboratory at The Blood Center. "In addition, the Signature Script software will assist our laboratory in monitoring the quality control of this complex genetic test.”




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