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.
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Acknowledgements
We thank M. Goossens, P.F. Pignatti, M. Stuhrmann, X. Estivill and R. Mountford for help in the distribution of samples; M. Schwartz and H. Scheffer for help in the QA scheme evaluation; and all the participating laboratories. This work was performed within the framework of the European Concerted Action on Cystic Fibrosis (Biomed-2, contract number BMH4-CT96-0462).
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Dequeker, E., Cassiman, JJ. Genetic testing and quality control in diagnostic laboratories. Nat Genet 25, 259–260 (2000). https://doi.org/10.1038/77008
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DOI: https://doi.org/10.1038/77008
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