Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
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.
Dequeker
Els
E
Center for Human Genetics, Campus Gasthuisberg, KULeuven, Belgium.
Stuhrmann
Manfred
M
Morris
Michael A
MA
Casals
Teresa
T
Castellani
Carlo
C
Claustres
Mireille
M
Cuppens
Harry
H
des Georges
Marie
M
Ferec
Claude
C
Macek
Milan
M
Pignatti
Pier-Franco
PF
Scheffer
Hans
H
Schwartz
Marianne
M
Witt
Michal
M
Schwarz
Martin
M
Girodon
Emmanuelle
E
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator