Male infertility (CFTR gene – analysis of 7 mutations)
Analysis ID 203
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Male infertility (CFTR gene – analysis of 7 mutations)
OMIM 277180
Clinical information Congenital bilateral aplasia of the vas deferens (CBAVD), which leads to male infertility, may occur in isolation or as a manifestation of cystic fibrosis. Males with cystic fibrosis are infertile because of abnormal functioning of the vas deferens. The changes that occur in the ducts comprise degenerative obstruction similar to this which is found in excretory glands in cystic fibrosis.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes CFTR
Analysis description Analysis comprise identification of 7 common mutations in the CFTR gene
Analysis indication Male infertility
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics