Hemophilia A
Analysis ID 230
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. Other causative alterations comprise exonic deletions or duplications within the F8 gene.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes F8; coagulation factor VIII
Analysis description Analysis comprise copy number determination of all exons of the F8 gene with use of MLPA method
Analysis indication Hemophilia A (especially once the inversion in intron 22 of the F8 gene has been excluded)
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics