Genetic testing and quality control in diagnostic laboratories

E Dequeker; J J Cassiman

doi:10.1038/77008

Genetic testing and quality control in diagnostic laboratories

Nat Genet. 2000 Jul;25(3):259-60. doi: 10.1038/77008.

Authors

E Dequeker¹, J J Cassiman

Affiliation

¹ Center for Human Genetics, University of Leuven, Leuven, Belgium. [email protected]

PMID: 10888869
DOI: 10.1038/77008

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
DNA / analysis
Diagnostic Errors
Diagnostic Tests, Routine / statistics & numerical data
Diagnostic Tests, Routine / trends
Genetic Testing / trends
Humans
Laboratories
Mutation
Quality Control

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator
DNA