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Advances in laboratory testing for thrombophilia

Nicholas V Johnson1, Bernard Khor, Elizabeth M Van Cott

  • 1Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Massachusetts 02114, USA.

American Journal of Hematology
|April 5, 2012
PubMed

Testing for hereditary thrombophilia typically includes tests for activated protein C resistance (APC-R) and/or factor V Leiden, protein C, protein S, antithrombin, and prothrombin G20210A. New options for these assays have become available in recent years, with different advantages and disadvantages among the currently available methods. Potential interferences for each assay type are discussed, including lupus anticoagulants, heparin, warfarin, direct thrombin inhibitors (such as argatroban, dabigatran, hirudin, or bivalirudin), rivaroxaban, factor deficiencies or elevations, factor V Leiden, and specific mutations that the assay(s) might not be able to detect. Causes of acquired deficiencies are also described, as these must be carefully excluded before diagnosing a hereditary deficiency of protein C, protein S, or antithrombin.

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