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Congenital fibrinogen abnormalities are rare orphan diseases. They are classified as quantitative abnormalities, defined by a total deficit (afibrinogenemia) or low level (hypofibrinogenemia) of circulating fibrinogen, and as qualitative abnormalities characterized by a discrepancy between the level of circulating fibrinogen measured by a functional method and the antigenic level (dysfibrinogenemia or hypodysfibrinogenemia). Laboratory diagnosis is based on conventional hemostasis testing and is usually confirmed by genetic testing.
The Geneva Platelet Group is a translational research group that aims to bring together multiple experts on the study of platelet function and antiplatelet medications. The group is coordinated by Prof. P. Fontana and Prof. J.-L Reny and works closely with the Group for Translational Research in Biomarkers directed by Prof. J.-C.
The French-speaking Swiss Unit for Platelet Diseases brings together platelet disorder specialists from the HUG and the CHUV. The regular meetings aim to discuss particularly difficult cases as to methods of investigation and care.
The HUG Hemostasis Laboratory has offered platelet immunology tests for several years. The following tests are currently available:
The following services are performed 24/7:
Currently, the laboratory processes over 180,000 samples each year, primarily for the HUG care units but also for Swiss hospitals and laboratories outside of the HUG.
The services are quite varied, ranging from routine tests (51%) to specialized tests for congenital or acquired hemostasis disorders (19%) and monitoring of anticoagulant treatment for venous thromboembolic disease (30%).Find the complete list of laboratory services
Routine tests are performed 24/7 every day of the year through the joint effort of the teams of the Hemostasis Laboratory and the Hematology Laboratory on a shared technical platform.
Specialized tests are performed exclusively by the team of the Hemostasis Laboratory, comprised of 5 technicians, a biologist in charge of technique and quality, and a physician managing the laboratory. The Hemostasis Laboratory works in close collaboration with the Hemostasis Unit, in particular for expert clinical assessment of the laboratory results.