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Diagnosing thrombophilia today with particular reference to genetic factors and the antiphospholipid antibody syndrome1

Paul Cullen1 / Susanne Adam1 / Brigitte Kaiser2 / Michael Neumaier3 /

1MVZ für Laboratoriumsmedizin Dr. Löer, Dr. Treder und Kollegen, Münster

2Institut für Molekulare Hämostaseologie, Friedrich-Schiller-Universität Jena, Jena

3Institut für Klinische Chemie, Universitätsklinikum Mannheim, Universität Heidelberg, Mannheim

Correspondence: Prof. Dr. Paul Cullen, MVZ für Laboratoriumsmedizin Dr. Löer, Dr. Treder und Kollegen, Hafenweg 11, 48155 Muenster, Germany Tel.: +251-60916 105 Fax: +251-60916 110

Citation Information: LaboratoriumsMedizin. Volume 33, Issue 5, Pages -–-, ISSN (Online) 1439-0477, ISSN (Print) 0342-3026, DOI: 10.1515/JLM.2009.046et, October 2009

Publication History

Published Online:


Deep vein thrombosis is not a rare medical condition, and the investigation of a clotting disposition or thrombophilia is one of the most common tasks required of the medical laboratory. In this complex approach, the diagnosis is achieved on the basis of the clinical features backed up by the combination of investigations of clotting function, biochemical analyses, and genetic tests. Therefore, the investigation of thrombophilia represents as a good example of the role of molecular genetic testing in laboratory medicine. The aim of the present review is to outline the current state of the art in investigating thrombophilia with particular reference to molecular genetic testing. One cause of thrombophilia that is often overlooked is the presence of antiphospholipid antibodies. Accordingly, they also receive detailed attention.

Keywords: antiphospholipid antibodies; lupus anticoagulant; thrombophilia

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