Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands
Joint Authors
Defesche, Joep C.
Huijgen, Roeland
Boekel, Marieke
Kindt, Iris
van der Gaag, Kristiaan J.
Kastelein, John J. P.
de Knijff, Peter
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-08
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kindt, Iris& Huijgen, Roeland& Boekel, Marieke& van der Gaag, Kristiaan J.& Defesche, Joep C.& Kastelein, John J. P.…[et al.]. 2013. Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands. Cholesterol،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-479186
Modern Language Association (MLA)
Kindt, Iris…[et al.]. Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands. Cholesterol No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-479186
American Medical Association (AMA)
Kindt, Iris& Huijgen, Roeland& Boekel, Marieke& van der Gaag, Kristiaan J.& Defesche, Joep C.& Kastelein, John J. P.…[et al.]. Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands. Cholesterol. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-479186
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-479186