Detection of deletion in the AZF region
The test allows to detect microdeletions in the AZF (azoospermia factor) regions located in the long arm of the Y chromosome and undetectable with cytogenetic techniques, and to determine whether the male infertility has genetic background. In the AZF region of the Y chromosome there are genes coding proteins involved in spermatogenesis, i.e. the process of the production of sperm cells.
The presence of microdeletions in the AZF region of the Y chromosome causes the dysfunctions of proteins responsible for the proper production of male gametes and belongs to the genetic factors of the development of male infertility. It is considered that approximately 25% of men with fertility disorders have microdeletions within the AZF regions of the Y chromosome. Mutations (deletions) in the AZF regions are responsible for impaired semen parameters, i.e. so-called azoospermia or severe oligospermia, meaning lack of or a very low number of sperm cells in the semen. Changes in the AZF gene are inherited in the male line.
Detection of 2 mutations in CFTR gene
This test consists in the analysis of basic mutations in the CFTR gene.
It covers two changes within the CFTR gene which are most common in the Polish population: delF508 and dele 2,3, accounting for approx. 60% of all mutations. Mutations in the CFTR gene are a cause of cystic fibrosis. The CFTR gene is located on the chromosome 7 and encodes a membrane protein that forms a chloride channel. Cystic fibrosis is one of the most common genetic disorders that is inherited in a recessive autosomal pattern. In the Polish population its incidence is 1 per 2500 of births. A broad spectrum of symptoms of cystic fibrosis is caused by the production of abnormally viscous mucus in all body organs with mucous glands. This leads to changes mainly in respiratory, digestive and reproductive system. Changes in the reproductive system cause bilateral absence or obstruction of vasa deferentia (CAVD, Congenital Absence of the Vas Deferens) in men, while in women they cause an increase in the density of cervical mucus, thereby hindering migration of the sperm. It is estimated that in Poland approximately 1.5 million people are asymptomatic carriers of mutations in the CFTR gene. Therefore a positive result of the test for CFTR in one of the partners indicates the need to test the other one. Determination who is the carrier of a disease in a given couple allows to estimate the risk