Why is genetic testing important for male infertility?

Infertility is a common medical problem affecting 15% of people trying to conceive. In 30% to 50% of cases, the man is the main factor in the inability to conceive.

Detection of genetic causes of male infertility allows the diagnosis of infertility in couples trying to start a family, as well as making recommendations for further steps to be taken (artificial insemination techniques and appropriate genetic counseling).

Spermatogenesis is an essential process that is regulated by many specific genes located on the Y chromosome. Most of these genes are located in a specific region known as the azoospermia factor (AZF) region of the long arm of the human Y chromosome.

AZF microdeletions are recognized as the most common structural chromosomal abnormalities and are the leading cause of male infertility.

The changes in this region are associated with abnormalities in sperm production, and thus to infertility. AZF microdeletions are one of the main causes of azoospermia (complete absence of sperm in the ejaculate) and severe oligozoospermia (less than 5 million sperm in the ejaculate in men).

A new test performed in the Avicena Laboratory detects chromosomal changes-deletions of AZF (AZFa, AZFb, AZFc) on the human Y-chromosome, using the RT-PCR method.

Sample required: blood
Production time: 1 working day.
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