title: Introduction to molecular cystic fibrosis testing.
abstract: Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
authors.forename: Timothy S
authors.initials: TS
authors.lastname: Uphoff
authors.forename: W Edward
authors.initials: WE
authors.lastname: Highsmith
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques; D014481:United States / Q000453:epidemiology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator