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).
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.