Diagnosing thrombophilia with particular reference to genetic factors

作者:Cullen Paul*; Adam Susanne; Kaiser Brigitte; Neumaier Michael
来源:Journal of Laboratory Medicine, 2009, 33(5): 283-292.
DOI:10.1515/JLM.2009.046

摘要

Deep vein thrombosis is a common medical condition and investigation of clotting status or thrombophilia is a common task in the medical laboratory. Differential diagnosis is based on the clinical features and a combination of clotting function, biochemical, and genetic tests. Therefore, investigation of thrombophilia represents 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 anti phospholipid antibodies, so this topic also receives particular attention.

  • 出版日期2009-10