title: Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
abstract: The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.
authors.affiliation: Center for Human Genetics, Campus Gasthuisberg, KULeuven, Belgium.
authors.forename: Els
authors.initials: E
authors.lastname: Dequeker
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: Michael A
authors.initials: MA
authors.lastname: Morris
authors.forename: Teresa
authors.initials: T
authors.lastname: Casals
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Harry
authors.initials: H
authors.lastname: Cuppens
authors.forename: Marie
authors.initials: M
authors.lastname: des Georges
authors.forename: Claude
authors.initials: C
authors.lastname: Ferec
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Pier-Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: Michal
authors.initials: M
authors.lastname: Witt
authors.forename: Martin
authors.initials: M
authors.lastname: Schwarz
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Girodon
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000592:standards; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics; D007410:Intestinal Diseases / Q000175:diagnosis / Q000196:embryology / Q000235:genetics; D007753:Laboratories / Q000592:standards; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D018570:Risk Assessment
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator