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标题：Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands
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作者：Iris Kindt ; Roeland Huijgen ; Marieke Boekel 等
期刊名称：Cholesterol
印刷版ISSN：2090-1283
电子版ISSN：2090-1291
出版年度：2013
卷号：2013
DOI：10.1155/2013/531658
出版社：Hindawi Publishing Corporation
摘要：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.