FertiGenes Test™ Male Infertility is a genetic test for men planning to become fathers. It has been designed for couples seeking to become parents. The test allows for determination of mutations present in the man’s DNA and how they could affect the pregnancy and the baby’s health.
Panel of genetic tests for men includes:
• Detection of deletions in the AZF region: This test aims to identify microdeletions in AZF regions (azoospermia factor) present on the long arm of the Y chromosome and to determine whether male infertility is genetic. The AZF region of the Y chromosome is the location of the genes coding proteins responsible for spermatogenesis, i.e. the production of sperm cells. Presence of microdeletions may mean that these proteins are dysfunctional and result in problems with male fertility. It is estimated that 25% of patients with problems getting their partners pregnant have microdeletions in the AZF region of the Y chromosome. Mutations (deletions) in the AZF regions are responsible for impaired semen parameters, such as azoospermia or severe oligospermia, which are 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 a mutation in the AZF gene allows identification of the reason for impaired semen parameters.
• Detection of 2 mutations in CFTR gene: The two most common changes that are usually detected in the Polish population are: delF508 and dele 2,3. They account for approx. 60% of all detected 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 inherited in a recessive autosomal pattern. In the Polish population its incidence is 1 per 2500 births. It is estimated that there are approximately 1.5 million asymptomatic carriers of mutations in the CFTR gene in Poland. Therefore a positive result of the test for CFTR in one of the partners indicates the need to test the other one. Determination of the couple’s carrier status allows estimating the risk of having a sick child. Detection of a mutation in the CFTR gene makes it possible to avoid cystic fibrosis, one of the most genetically conditioned diseases, in the future offspring. It also allows for more accurate diagnosis of some forms of male infertility such as bilateral lack of or obstruction of the spermatic ducts, obstructive azoospermia (lack of sperm cells in the semen).
Detection of genetic changes (mutations) makes it possible to quickly undertake appropriate actions and to modify treatment strategies depending on the results obtained. For that reason genetic testing is also recommended to patients who prepare for an IVF procedure.