
Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening
Keywords: ACMG; American College of Medical Genetics; CFF; Cystic Fibrosis Foundation; CFTR; Cystic Fibrosis Transmembrance Conductance Regulator gene; DBS; dried-blood spot; IRT; Immunoreactive trypsinogen; NBS; Newborn screening; NSQAP; Newborn Screening Quality