title: Molecular Diagnosis of Cystic Fibrosis.
abstract: This unit describes a recommended approach to identifying causal genetic variants in an individual suspected of having cystic fibrosis. An introduction to the genetics and clinical presentation of cystic fibrosis is initially presented, followed by a description of the two main strategies used in the molecular diagnosis of cystic fibrosis: (1) an initial targeted variant panel used to detect only the most common cystic fibrosis-causing variants in the CFTR gene, and (2) sequencing of the entire coding region of the CFTR gene to detect additional rare causal CFTR variants. Finally, the unit concludes with a discussion regarding the analytic and clinical validity of these approaches.
authors.affiliation: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California.
authors.forename: Joshua L
authors.initials: JL
authors.lastname: Deignan
authors.affiliation: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California.|Divisions of Medical Genetics and Molecular Diagnostics, Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California.
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CBAVD; CFTR; cystic fibrosis; pancreatic insufficiency; sequencing