Rapid chloride and bicarbonate determination by capillary electrophoresis for confirmatory testing of cystic fibrosis infants with volume-limited sweat specimens

Cystic fibrosis (CF) is a life-shortening autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) channel, which leads to chronic malnutrition, progressive pulmonary injury, and other health complications if left untreated [1]. The advent of universal newborn screening (NBS) for CF enables initiation of therapeutic interventions during infancy for improved long-term health outcomes as compared to symptomatic diagnosis [2]. Most CF neonates are screened using a multi-tiered algorithm based on elevated immunoreactive trypsinogen (IRT) along with a panel of one or two disease-causing CFTR mutations from dried blood spots [3], which may also include next generation sequencing to improve overall positive predictive value [4].

Source: Journal of Cystic Fibrosis - May 13, 2022 Category: Respiratory Medicine Authors: Stellena Mathiaparanam, Adriana Nori de Macedo, Biban Gill, Katherine Keenan, Tanja Gonska, Linda Pedder, Stephen Hill, Philip Britz-McKibbin Source Type: research