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

ObjectivesThe 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 methodsDNA 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.ResultsOf 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.ConclusionLipochip® provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed FH.