The test detecting gene mutation of male chromosome Y
AZF test
The AZF test helps to determine the cause of male infertility. The fact that in the semen there are no sperm cells (azoospermia) or extremely few sperm cells (oligozoospermia) may be due to a mutation of the Y chromosome. Further treatment of the couple's infertility will also depend on the outcome of the test.
AZF and fertility
The AZF region test includes a genetic analysis of the region located on the long arm of the Y chromosome. Genes responsible for spermatogenesis, i.e. production of sperm cells, are found there. The absence of one of these genes or its mutation is the cause of spermatogenesis disorder, which will manifest itself in reduced sperm cells count or their total absence.
According to scientific research, about 25% of infertile men have microdeletions in the AZF region. The AZF region is divided into three sub-regions: AZFa, AZFb, AZFc.
- In the case of microdeletions in the AZFa subregion, the chances of obtaining sperm during testicular biopsy are not very effective, usually only Sertoli cells are found, which are responsible for the functions regulating spermatogenesis and a nutritional function,
- With AZFb microdeletions, the chance of obtaining sperm cells during testicular biopsy is low.
- The greatest chance for the presence of sperm during a testicular biopsy is when there is an AZFc microdeletion - more than half of patients with this genetic defect undergo a testicular biopsy successfully.
Sperm cells obtained from the biopsy are used for in vitro fertilization using the ICSI method or frozen for later use in assisted reproduction. The frequency of AZFa, AZFb and AZFc occurrence is as follows: 0,5-4%, 1-5%, and 80%, respectively. Genetic changes within the AZF region are transmitted to male offspring.
When to perform an AZF test?
If the semen test reveals extreme oligozoospermia or azoospermia, the result should be consulted with an andrologist, who will recommend an AZF test if the genetic cause of the semen test result is suspected.
How to prepare for an AZF test?
You don't need to be specially prepared for AZF genetic test. It does not require fasting or withdrawal of drugs. It is performed at our facilities from the patient's whole venous blood, just like the ordinary complete blood count. The patient receives the AZF result after approx. 4-6 weeks.
Where to perform an AZF test?
An AZF test is performed at each InviMed clinic during the working hours of the collection point. You don't need to be registered to undergo a genetic test for chromosome Y mutation.