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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.

Diagnosing thrombophilia today with particular reference to genetic factors and the antiphospholipid antibody syndrome 1