CLSI NBS05-A

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Cystic fibrosis (CF), a common genetic disorder, is due to mutations in the Cystic Fibrosis Transmembrane ConductanceRegulator (CFTR) gene. Early diagnosis through newborn screening (NBS) benefits patients with CF and is now practicedthroughout the United States, Australasia, and most western European countries. This guideline was developed with internationalconsensus and describes comprehensively the laboratory tests for detecting CF risk among newborns as well as recommendationsfor follow-up care. The document focuses on the use of immunoreactive trypsinogen (IRT) assays and the detection of specificCFTR mutations with the IRT/deoxyribonucleic acid screening strategy. Special attention is given to CFTR mutations ingeographically and ethnically diverse populations. A core panel of CFTR mutations is recommended with guidance included on itspotential expansion. The intended target audience includes NBS laboratory and program personnel, regulatory agencies, CF centerpersonnel, neonatologists, primary care providers, organizations responsible for networks of CF centers, and a variety of publichealth policy makers.

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