New Prenatal Cystic Fibrosis Tests Improve CFTR Screening Options

By LabMedica International staff writers
Posted on 04 Nov 2014

A new set of prenatal cystic fibrosis (CF) screening tests offer flexibility and comprehensiveness in screening for important CFTR gene variants.

Through its Institute for Biomarker Research division, Medical Diagnostic Laboratories, LLC (MDL; Hamilton, NJ, USA) is now offering a new CF testing option that utilizes cutting-edge technology, including next-generation sequencing (NGS) platforms. MDL, a member of the Genesis Biotechnology Group, is a CLIA-certified, CAP-accredited laboratory that specializes in high-complexity, state-of-the-art, automated DNA-based molecular analyses.

Image: The cystic fibrosis transmembrane conductance regulator (CFTR) channel protein controls the flow of H2O and Cl- ions into and out of lung cells. When CFTR is working correctly (Panel 1), these ions flow in and out. However, when CFTR is malfunctioning (as in Panel 2), these ions cannot flow out of the cell due to channel blockage, leading to the buildup of thick mucus in the lungs characteristic of cystic fibrosis (Photo courtesy of Wikimedia (user Lbudd14)).

More than 1,800 different mutations have been discovered since the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for CF (also called mucoviscidosis) was discovered in 1989. Offering CF carrier screening to all pregnant women as well as for preconception evaluation is now commonplace and formally recommended. Newborn screening for CF does not replace maternal-carrier screening. Screening is most efficacious in the non-Hispanic Caucasian and Ashkenazi Jewish populations.

Utilizing updated technologies, including NGS, MDL offers a diverse panel with high accuracy genetic testing that provides noninvasive, easy specimen collection methods for CF testing using mouthwash samples or cervico-vaginal swabs. Blood is also an acceptable source.

The MDL "Cystic Fibrosis Core Test" is a CFTR gene sequence analysis that screens for the 23 major mutations recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). The MDL "Cystic Fibrosis Comprehensive Test" is an expanded analysis that screens for 191 CFTR gene variants, including the recommended 23 major mutations and the 9 mutations recommended by the US Food and Drug Association (FDA) for determining Ivacaftor (Kalydeco) treatment efficiency. The MDL "Cystic Fibrosis Site Specific Analysis" screens for known family CF mutations previously identified in blood relatives.

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