Dear Peter (again!!!),

in case of dysfibrinogenemia, we send our DNA samples to Dr. Geisen in Frankfurt/Main!

First, we diagnose it by combining a functional test (Clauss) with an immunologic one!

https://www.blutspende.de/ueber-uns/institute-einrichtungen/frankfurt/christof-geisen.php

Dear Julian

Thank you, we have currently build a new biomedical institute and the diagnosis is just recently being performed in-house. Nevertheless, we will also use the valuable adress you provided in case of any consultations. 

Regards

Peter

Dear Peter,

The laboratory diagnosis of dysfibrinogenemia can be performed according to a guideline published some years ago: Cunningham MT, Brandt JT, Laposata M, Olson JD. Laboratory diagnosis of dysfibrinogenemia. Arch Pathol Lab Med 2002;126 :499 – 505.

The thrombin time is used as screening test. If prolonged the ratio between fibrinogen activity and fibrinogen antigen is used as confirmatory test. Fibrinogen electrophoresis and genetic tests should subsequently be performed to establish the diagnosis. We suggested recently that fibrin structure analysis should be included in the diagnostic work. I enclose a copy of our publication for your information. A simple photometric test can be used to screen for defects in fibrin structure by following the polymerization of fibrin at 340 nm, comparing the patient with a normal pool.

I am not aware of a guideline for the genetic test.

Best regards

Johannes