The clinical utility of sequencing the entirety of CFTR.
Molly B SheridanMelis A AksitKymberleigh PagelKurt HetrickHannah Shultz-LutwycheBen MyersKati J BuckinghamRhonda G PaceHua LingElizabeth PughWanda K O'NealMichael J BamshadRonald L GibsonMichael R KnowlesScott M BlackmanGarry R CuttingKaren S RaraighPublished in: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society (2024)
Whole-gene CFTR analysis is beneficial in individuals with one previously-identified P/LP variant and a CF-diagnostic sweat chloride. Negative conventional CFTR testing indicates that the phenotype should be re-evaluated.