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Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

Authors
Journal
Clinical Biochemistry
0009-9120
Publisher
Elsevier
Publication Date
Volume
42
Issue
9
Identifiers
DOI: 10.1016/j.clinbiochem.2009.01.017
Keywords
  • Familial Hypercholesterolemia
  • Low-Density Lipoprotein Receptor
  • Dna Micro Array
  • Premature Atherosclerosis
  • Genetic Screening
Disciplines
  • Biology
  • Medicine

Abstract

Abstract Objectives The aim of this study was to validate the Lipochip ® genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene. Design and methods DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip ® platform. Results obtained were confirmed by DNA sequencing and MLPA analysis by two other, independent laboratories. Results Of 808 patients tested, Lipochip ® detected a mutation in 66% of the cases and of these 78% were detected by the micro array. A specificity of 99.5% at a sensitivity of 99.8% was reached. A positive test result could be reported within 22 days after start of analysis. The total average screening costs of $ 350 per case were significantly lower compared to other existing screening programs. Conclusion Lipochip ® provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed FH.

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