Testing for the cystic fibrosis (CF) helped to fuel the first wave of clinical molecular diagnostics. Now, an assay developed by researchers at the Stanford University taps the power of multiplex next-generation sequencing (NGS) to enable early detection and management of CF in ways that could consolidate sample types and technologies. The highly sensitive, specific, rapid, and potentially cost-effective new test is described in a paper published in the March issue of the Journalof Molecular Diagnostics. Cystic fibrosis is the most common fatal genetic disease in the United States. Newborns in every U.S. state have been screened for CF since2010, but the current tests vary widely and have limitations. "The assays in use are time-consuming and don’t test the entire cystic fibrosis gene," says the study’s senior author, Curt Scharfe, M.D., Ph.D.,now at Yale University. "They don’t tell the whole story." Most CF tests now in use begin with immunoreactive trypsinogen testing of dried blood spots (DBSs) taken from newborn heel sticks. Since this assay is sensitive but prone to false positives, newborn screening programs rely on tiered strategies, which reflex hypertrypsinogenemic specimens to methods that interrogate a relatively small number of common CF mutations. If one of the common […]