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Coagulation

Coagulation laboratory tests

Prothrombin gene 20210A testing

Reviewer: Jeremy Parsons, M.D. (see Reviewers page)
Revised: 10 February 2013, last major update November 2012
Copyright: (c) 2002-2013, PathologyOutlines.com, Inc.

General
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● 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

Methodology
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● 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

End of Coagulation > Coagulation laboratory tests > Prothrombin gene 20210A testing

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