title: Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.
abstract: All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Centers for Disease Control and Prevention's Newborn Screening Quality Assurance Program houses a dried blood spot repository of samples containingCFTRmutations to assist newborn screening laboratories and ensure high-quality mutation detection in a high-throughput environment. Recently,CFTRmutation detection has increased in complexity with expanded genotyping panels and gene sequencing. To accommodate the growing quality assurance needs, the repository samples were characterized with several multiplex genotyping methods, Sanger sequencing, and 3 next-generation sequencing assays using a high-throughput, low-concentration DNA extraction method. The samples performed well in all of the assays, providing newborn screening laboratories with a resource for complexCFTRmutation detection and next-generation sequencing as they transition to new methods.
authors.affiliation: Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors.forename: Miyono M
authors.initials: MM
authors.lastname: Hendrix
authors.affiliation: Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Foster
authors.affiliation: Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors.forename: Suzanne K
authors.initials: SK
authors.lastname: Cordovado
keywords: CFTR; cystic fibrosis; mutation; newborn screening; next-generation sequencing