Abstract
A quality control study was performed to determine the accuracy of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) mutation screening in 40 different genetic screening laboratories throughout Europe. A total of 9 different samples were investigated blindly by the participating laboratories. Only 25/40 laboratories, i.e. 62.5%, were able to type all samples correctly for the mutations for which they routinely screened. Only 2 of the 9 samples were correctly typed in all 40 laboratories. The lowest accuracy rate was 80% for 1 sample. 12.5% of the participating laboratories interpreted the F508C polymorphism as a true CF disease mutation and 12.5% interpreted the ΔI507 mutation as a ΔF508 mutation. For the ΔF508 mutation, a false-negative result of 3.75% was obtained. It is clear that the accuracy of CFTR typing should be improved.
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Acknowledgements
This study was supported by the European Concerted Action on Cystic Fibrosis.
Author information
Authors and Affiliations
Additional information
Harry Cuppens and Jean-Jacques Cassiman (Leuven, Belgium) were responsible for the analysis of the data and the drafting of this paper. The manuscript was reviewed by all participating laboratories, which are listed in the Appendix.
Study Participants
Study Participants
Belgium
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P. Cochaux,
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Laboratoire de Génétique Moléculaire
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Hospital Erasme-Bâtiment C
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808 Route de Lennik
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B-1070 Brussels
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H. Cuppens and J.J. Cassiman
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Center for Human Genetics
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University of Leuven
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Gasthuisberg
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Herestraat 49
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B-3000 Leuven
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J-Poncin
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Laboratoire de Biologie Moléculaire
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Centre de Génétique
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Université de Liège
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CHU Sart Tilman
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Tour de Pathologie
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B-4000 Liège
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W. Lissens
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Department of Medical Genetics
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AZ-VUBrussel
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Laarbeeklaan 101
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B-1090 Brussels
France
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M. Claustres and M. Desgeorges
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Laboratoire de Biochimie Génétique
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Institut de Biologie
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Boulevard Henri IV
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F-34060 Montpellier
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E. Denamur and J. Elion
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Laboratoire de Biochimie Génétique
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Hôpital Robert Debré
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48 Bd. Sérurier
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F-75019 Paris
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M. Goossens
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Laboratoire de Biochimie
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INSERM U19
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Hospital Henri Mondor
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F-94010Créteil
Germany
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R. Bruckner, O.V. Guericke
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Universität Magdeburg
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Med. Fakultät
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Inst. Humangenetik
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Leipziger Strasse 44
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D-39120 Magdeburg
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E. Schröder
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Inst, fur Humangenetik und
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Anthropologie
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Med. Einrichtungen der
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Heinrich-Heine-Universität
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Universitätsstrasse 1
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D-40225 Düsseldorf
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M. Stuhrmann
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Abteilung Humangenetik
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Med. Hochschule Hannover
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Postfach 61 01 80
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D-30623 Hannover
Italy
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G. Cabrini
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Laboratory of Biochemistry and
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Molecular Genetics
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Cystic Fibrosis Center
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Ospedale Civile Maggiore
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Piazzale Stefani 1
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I-37126 Verona
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A. Carbonara
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Dept. di Genetica, Biologia e
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Chimica Medicina
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CNRCII/CIOS
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Univ. di Torino
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Via Santena 19
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I-10126 Torino
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P. Maceratesi
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Chair of Human Genetics
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Tor Vergata University of Rome
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Rome
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P.F. Pignatti
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Biologia e Genetica
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Strada le Grazie
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I-37134 Verona
The Netherlands
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D. Halley
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Afdeling Klinische Genetica
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Dr. Molewaterplein 50
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NL-3015 GE Rotterdam
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H. Scheffer
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Department of Medical Genetics
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Antonius Deusinglaan 4
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NL-9713 AW Groningen
Portugal
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J. Lavinha and P. Pacheco
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Dept. de Genética Humana
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Inst. Nacional de Saude
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Av. Padre Cruz
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P-1699Lisboa
Sweden
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M. Anvret
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Department of Clinical Genetics
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Karolinska Hospital
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S-171 76 Stockholm
Switzerland
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S. Liechti-Gallati
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Laboratory of Molecular Genetics
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Institute of Clinical Pharmacology
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University of Bern
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Murtenstrasse 35
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CH-3010 Bern
United Kingdom
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M. Schwarz
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Coordinator for the MGQA Committee
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Regional Molecular Genetics
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Laboratory
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Paediatric Genetics Unit
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Royal Manchester Children’s Hospital
-
Hospital Road
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Manchester M27 1HA
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Cuppens, H., Cassiman, JJ. A Quality Control Study of CFTR Mutation Screening in 40 Different European Laboratories. Eur J Hum Genet 3, 235–245 (1995). https://doi.org/10.1159/000472304
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DOI: https://doi.org/10.1159/000472304
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