title: Genetic testing and quality control in diagnostic laboratories.
abstract: To evaluate the quality of genetic testing for cystic fibrosis, 136, 145 and 159 laboratories participated in a European study in 1996, 1997 and 1998, respectively. We sent six purified DNA samples carrying the more common CFTR mutations with the request to test them using routine protocols. A panel of experts reviewed the results together with the raw data.
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, Belgium. els.dequeker@med.kuleuven.ac.be
authors.forename: E
authors.initials: E
authors.lastname: Dequeker
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000032:analysis; D003951:Diagnostic Errors; D003955:Diagnostic Tests, Routine / Q000706:statistics & numerical data / Q000639:trends; D005820:Genetic Testing / Q000639:trends; D006801:Humans; D007753:Laboratories; D009154:Mutation; D011786:Quality Control
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA