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FDA approved genetic test for cystic fibrosis
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Health care providers now have the ability to screen parents and diagnose newborns with an improved molecular diagnostic test that can detect 39 cystic fibrosis-causing gene mutations.
Using blood tests, physicians can screen two panels of genes with the xTAG Cystic Fibrosis Kit (Luminex Molecular Diagnositics) — either the 23 mutations and four polymorphisms recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists to detect cystic fibrosis, or an expanded panel including 16 additional mutations.
The test gives doctors a much-needed option, according to Wayne W. Grody, MD, PhD, professor in the departments of pathology and laboratory medicine, pediatrics and human genetics at the University of California Los Angeles School of Medicine. “The ACMG panel was devised and recommended only for population-based carrier screening. It was not intended to also serve as the standard for diagnostic testing in newborn screening; for these purposes, laboratories are free to select panels that examine greater or fewer mutations,” he said in a press release.
The test is a modified version of a similar product from the same company, which received clearance in 2005, and decreases the amount of time necessary to perform the procedure with results available with a few hours.
Improving cystic fibrosis early detection and treatment has the potential to lower rates of complication and increase life expectancy.