Molecular testing for coagulation abnormalities

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Book Section

© Springer Science+Business Media New York 2013. All rights are reserved. Molecular testing is frequently used in conjunction with other laboratory analyses in the evaluation of patients with hemorrhagic as well as thrombotic disorders. The most common thrombophilic defects, factor V Leiden and the prothrombin G20210A mutation, are detected by molecular testing. Functional assays are used for the less common inherited hypercoagulable states, such as antithrombin or protein C deficiency, since no single mutation has been found to predominate in these deficiency states. Functional assays are also used to identify patients with hemophilia, but genetic analysis of these individuals is frequently performed to aid in the diagnosis of carriers and identify potentially affected children. Patients with thrombotic events are treated with anticoagulant therapy, which has traditionally been warfarin, a vitamin K antagonist. Recently, polymorphisms in CYP 2C9 and VKOR1 have been shown to affect the dose of warfarin required to achieve a target international normalized ratio (INR). Similarly, polymorphisms associated with the metabolism of clopidogrel have also been identified. Prospective clinical trials will be necessary to determine the optimal use of this information.

Full Text

Duke Authors

Cited Authors

  • Ramiah, V; Ortel, TL

Published Date

  • March 1, 2013

Volume / Issue

  • 9781461448006 /

Book Title

  • Molecular Genetic Pathology: Second Edition

Start / End Page

  • 955 - 974

International Standard Book Number 10 (ISBN-10)

  • 1461447992

International Standard Book Number 13 (ISBN-13)

  • 9781461447993

Digital Object Identifier (DOI)

  • 10.1007/978-1-4614-4800-6-36

Citation Source

  • Scopus