Prothrombin and Factor V Mutations

Genetic risk factors for venous thrombosis include two relatively common mutations: c.1601G>A p.R534Q (previously referred to as R506Q) in exon 10 of the human Factor V gene (commonly known as the Factor V Leiden mutation) and c.*97G>A (frequently referred to as G20210A) in the 3’ untranslated region of the Prothrombin gene. Testing for the presence these mutations is becoming increasingly important in the diagnostic evaluation of a range of different individuals in addition to those already presenting with hypercoagulability or other symptoms of venous thrombosis (see references below, with links to abstracts).

  • Air travel and thrombosis. Further information
  • Factor V Leiden and G20210A Prothrombin mutations are risk factors for very early recurrent miscarriage. Further information
  • Combined effect of Factor V Leiden and Prothrombin Pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Further information
  • Association of factor V Leiden mutation with delayed graft function, acute rejection episodes and long-term graft dysfunction in kidney transplant recipients. Further information

EDTA or Citrated whole blood samples only are routinely accepted for this assay. To check the suitability of any other potential sample types, please contact us.

The cost of this assay is per sample, for both the Factor V Leiden and Prothrombin G20210A mutations combined.