title: Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis.
abstract: These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external quality assurance, and for reporting the results, including the requirements of minimal services in mutation testing, the nomenclature for describing mutations, procedures to control false-positive amplification reactions and to validate tests, and guidelines to implement a quality system in a molecular diagnostic laboratory are reviewed.
authors: Steering Committee of the European Concerted Action on Cystic Fibrosis, Center for Human Genetics, Catholic University of Leuven, Belgium. els.dequeker@med.kuleuven.ac.be
authors: E
authors: E
authors: Dequeker
authors: H
authors: H
authors: Cuppens
authors: J
authors: J
authors: Dodge
authors: X
authors: X
authors: Estivill
authors: M
authors: M
authors: Goossens
authors: P F
authors: PF
authors: Pignatti
authors: H
authors: H
authors: Scheffer
authors: M
authors: M
authors: Schwartz
authors: M
authors: M
authors: Schwarz
authors: B
authors: B
authors: Tümmler
authors: J J
authors: JJ
authors: Cassiman
mesh_terms: D000068:Accreditation; D000293:Adolescent; D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D019992:Databases as Topic; D005060:Europe; D005189:False Positive Reactions; D005787:Gene Frequency; D005817:Genetic Counseling / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007246:Infertility / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis / Q000379:methods; D011786:Quality Control; D011933:Reagent Kits, Diagnostic; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013048:Specimen Handling; D013542:Sweat; D009626:Terminology as Topic
chemical_list: C505032:CFTR protein, human; D011933:Reagent Kits, Diagnostic; D019005:Cystic Fibrosis Transmembrane Conductance Regulator