Glanzmann thrombasthenia (GT)

LABOKLIN Service ID: 8077

Glanzmann’s thrombasthenia is a bleeding disorder that occurs in two different types. They differ in the amount of specific glycoproteins (aIIbb3) embedded in the cell membrane of platelets (thrombocytes), which are important part of the coagulation system. In the severe GT of type I this amount of glycoprotein is less than 5% of the normal value. A mutation in the aIIb gene disrupts the production of one main component of these glycoproteins. Symptomatically GT shows in form of bleeding diathesis and continuous gingival bleeding after shedding of deciduous teeth. Continuous epistaxis can also be an indication for this disorder.

Method	sequencing
Breed list	Pyrenean Mountain Dog
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab