Male Infertility – Genetic Causes: AZF – Testing for Identification of Microdeletions in the Y Chromosome

AZF (Azoospermia Factor) is a cluster of genes located on the long arm of the Y chromosome (male chromosome). Mutations within the AZF region lead to disturbances in sperm production (spermatogenesis), manifesting as azoospermia (absence of sperm in semen) or oligospermia (low sperm count). Mutations in this region are the second most common genetic cause of male infertility.

Purpose of the Test:

Identification of microdeletions in the AZF region of the Y chromosome: AZFa (sY84, sY86); AZFb (sY127, sY134); AZFc (sY254, sY255). The presence of microdeletions in the AZF region of the Y chromosome causes dysfunction of proteins responsible for proper sperm production and may be a contributing factor to male infertility.

Indications for AZF Testing:

• Men with a reduced sperm count found in a general semen analysis
• Men with elevated levels of FSH in serum
• Men planning to undergo assisted reproductive procedures (such as ICSI using their own sperm)

Method:

Real-time PCR, high sensitivity of the test – 99%

Sample Material:

• EDTA blood
• Oral swab

Instructions for sampling are included in the package.

Material Collection in Warsaw:

To arrange a pickup time for your shipment by a driver in Warsaw, please contact a BORLAMED employee by email or phone.

A laboratory employee will schedule a visit by our driver at the chosen time.

The material collection is free of charge.

You can also personally deliver the material for testing during the laboratory's working hours (Mon - Fri 9:00 AM - 5:00 PM).

Material Collection:

Schedule a pickup time for your shipment via courier or parcel locker – to do so, please contact a BORLAMED employee by email or phone. The laboratory employee will arrange for a courier or parcel locker and ask you to print the shipping label, which will be sent to your email address.

The material collection is free of charge.

In the case of genetic testing, it is necessary to complete a declaration of informed consent!