Factor V Leiden and FII 20210 testing in thromboembolic disorders

Clin Chem Lab Med. 2010 Dec:48 Suppl 1:S79-87. doi: 10.1515/CCLM.2010.372. Epub 2010 Nov 22.

Abstract

Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection are very important in order to define the increased relative risk for venous thromboembolism in selected patients. Use of DNA-based methods to detect both mutations has become widely available in clinical diagnostic laboratories, including fluorescence-based quantitative real-time PCR (qPCR). The latter is a rapid, simple, robust and reliable method to identify genotypes of interest. There are several chemistries used for qPCR; this article describes their principles and applicability for Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection.

Publication types

  • Review

MeSH terms

  • Activated Protein C Resistance / genetics
  • Clinical Chemistry Tests
  • Factor V / genetics*
  • Humans
  • Hydrolysis
  • Mutation
  • Nucleic Acid Hybridization
  • Polymerase Chain Reaction
  • Prothrombin / genetics*
  • Thromboembolism / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin