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Title: A quality-control study of cftr mutation screening in 40 different european laboratories - the european concerted action on cystic-fibrosis
Authors: Cuppens, Harry
Cassiman, Jean-Jacques # ×
Issue Date: Jul-1995
Publisher: Karger
Series Title: European journal of human genetics vol:3 issue:4 pages:235-245
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 Delta I507 mutation as a Delta F508 mutation. For the Delta F508 mutation, a false-negative result of 3.75% was obtained. It is clear that the accuracy of CFTR typing should be improved.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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