Cystic Fibrosis Newborn Screening

Abstract

Oklahoma newborn screening for cystic fibrosis begins with measuring the immunoreactive trypsinogen (IRT) level from the dried blood spot. If the IRT level is elevated, a DNA mutation test is performed on the dried blood spot to analyze for some of the most common mutations in the cystic fibrosis gene cystic fibrosis transmembrane conductance regulator (CFTR). As there are >1,200 known CF mutations, it is not feasible to test for each mutation. The following chart represents the mutations currently included in the Oklahoma newborn screen for cystic fibrosis: