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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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