title: Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Lipochip provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed FH.
authors.affiliation: Lipid Clinic, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.forename: Joep C
authors.initials: JC
authors.lastname: Defesche
authors.forename: Diego
authors.initials: D
authors.lastname: Tejedor
authors.forename: Sergio
authors.initials: S
authors.lastname: Castillo
authors.forename: Marianne
authors.initials: M
authors.lastname: Stef
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.forename: Pilar
authors.initials: P
authors.lastname: Gomez-Enterria
authors.forename: Ceferino
authors.initials: C
authors.lastname: Martinez-Faedo
authors.forename: Lluis
authors.initials: L
authors.lastname: Forga
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata