Coagulation

Coagulation laboratory tests

Prothrombin gene 20210A testing



Topic Completed: 1 November 2012

Minor changes: 23 September 2020

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PubMed Search: Prothrombin gene 20210A testing

Jeremy C. Parsons, M.D.
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Table of Contents
Definition / general | Laboratory
Cite this page: Parsons JC. Prothrombin gene 20210A testing. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/coagulationPT20210testing.html. Accessed October 18th, 2021.
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
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