Coagulation
Coagulation laboratory tests
Prothrombin gene 20210A testing

Author: Jeremy Parsons, M.D. (see Authors page)

Revised: 17 May 2016, last major update November 2012

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: Prothrombin gene 20210A testing

Table of Contents
Definition / General | Laboratory
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
Laboratory
  • 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