Hemophilia A
Analysis ID 54
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hemophilia A
OMIM 306700
Clinical information Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. Statistically 1 per 10000 boys is affected by hemophilia. Severe symptoms of hemophilia are present in 40% of the mutation carriers and are predominantly caused by intron 22 inversion. About 30-35% cases are caused by point (nonsense or missense) mutations of the gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes F8; coagulation factor VIII
Analysis description Analysis of the inversion of inton 22
Analysis indication Symptoms of Haemophilia A
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics