Testing for Factor V Leiden (FVL) and Prothrombin G20210A Genetic Variants

Methods Mol Biol. 2023:2663:233-251. doi: 10.1007/978-1-0716-3175-1_14.

Abstract

Laboratory testing for Factor V Leiden and Prothrombin G20210A genetic variants permits defining the increased relative risk for venous thromboembolism in selected patients. Laboratory DNA testing for these variants may be undertaken by a variety of methods, including fluorescence-based quantitative real-time PCR (qPCR). This is a rapid, simple, robust, and reliable method to identify genotypes of interest. This chapter describes the method that employs PCR amplification of the patient DNA region of interest and genotyping by allele-specific discrimination technology on a quantitative real-time PCR (qPCR) instrument.

Keywords: Allele-specific discrimination (ASD) technology; Factor V Leiden; Genotyping; Prothrombin G20210A; Quantitative real-time PCR (qPCR); Thrombosis; Venous thromboembolism.

MeSH terms

  • Factor V / genetics
  • Genotype
  • Humans
  • Mutation
  • Prothrombin* / genetics
  • Real-Time Polymerase Chain Reaction
  • Risk Factors
  • Thrombophilia
  • Venous Thromboembolism* / diagnosis
  • Venous Thromboembolism* / genetics

Substances

  • factor V Leiden
  • Prothrombin
  • Factor V

Supplementary concepts

  • Thrombophilia, hereditary