Familial Hypofibrinogenaemia and Dysfibrinogenaemia: FGA, FGB, FGG Sequencing

Diagnostic Use

Classical dysfibrinogenaemias results from an impairment of fibrin polymerisation. They are associated with prolonged thrombin clotting times and low functional, but normal antigenic fibrinogen concentrations, and are usually caused by point mutations in the regions of the fibrinogen chain genes coding for functional domains involved in polymerisation.

Hypofibrinogenaemias are associated with low functional and antigenic concentrations (less than 1.5 mg/mL) and can result from a variety of different mutations. These can affect either transcription, mRNA processing, translation, polypeptide chain processing and assembly, export from the hepatocyte, or the stability of the mature protein. Although heterozygosity for any such mutations might reduce fibrinogen levels below the normal range, they would not usually be expected to produce a significant clinical condition unless inherited in a homozygous, or compound heterozygous state. In this case afibrinogenaemia may result, and lead to a serious bleeding condition.


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests


FGA, FGB, FGG gene analysis
Fibrinogen gene analysis

Turnaround Time

4 weeks

Test Code