A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis.
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 23.5% 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.
Cuppens
H
H
Center for Human Genetics, University of Leuven, Belgium.
Cassiman
J J
JJ
D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005060:Europe; D005821:Genetic Techniques; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007391:International Cooperation; D007753:Laboratories / Q000592:standards*; D009154:Mutation; D011786:Quality Control; D015203:Reproducibility of Results
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator