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Volume 2013 (2013), Article ID 531658, 8 pages
Research Article

Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands

1Foundation for the Identification of Persons with Inherited Hypercholesterolemia (StOEH), Amsterdam, The Netherlands
2Department of Vascular Medicine, Academic Medical Center (AMC), 1105 AZ Amsterdam, The Netherlands
3Department of Human Genetics, Forensic Laboratory for DNA Research, Leiden, The Netherlands

Received 14 March 2013; Accepted 10 June 2013

Academic Editor: Gloria L. Vega

Copyright © 2013 Iris Kindt et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. Familial hypercholesterolemia (FH) is an inherited disorder associated with a severely increased risk of cardiovascular disease. Although DNA test results in FH are associated with important medical and ethical consequences, data on accuracy of genetic tests is scarce. Methods. Therefore, we performed a prospective study to assess the overall accuracy of the DNA test used in the genetic cascade screening program for FH in The Netherlands. Individuals aged 18 years and older tested for one of the 5 most prevalent FH mutations, were included consecutively. DNA samples were analyzed by the reference and a counter-expertise laboratory following a standardized procedure. Results. 1003 cases were included. In the end, 317 (32%) carried an FH mutation, whereas in 686 (69%) samples no mutation was found. The overall accuracy of the reference laboratory was 99.8%, with two false positive results identified by the counter-expertise laboratory. Conclusion. The currently used mutation analysis is associated with a very low error rate. Therefore, we do not recommend routine use of duplicate testing.