Cite this page: Prothrombin gene 20210A testing. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/coagulationPT20210testing.html. Accessed November 22nd, 2017.
Definition / general
- Mutation in G to A transition at nucleotide 20210 in 3 untranslated portion of prothrombin gene, which introduces a new Hind III restriction site
- Can identify heterozygotes and homozygotes
- G20210A mutation in heterozygotes is associated with increased risk of first venous thromboembolic episode (Br J Haematol 2001;113:630)
- Multiplexed arrays test for factor V Leiden, MTHFR C677T and other sequences
- Specimen is whole blood
- Usually PCR amplification of 3 untranslated region of prothrombin gene surrounding the 20210 polymorphism, then either gel electrophoresis, radioisotopic probing or restriction endonuclease digestion with Hind III to detect the nucleotide sequence