Molecular testing of AZF region of Y chromosome

One of the causes of male infertility is associated with changes in the Y chromosome: microdeletions in the AZF region. Under normal conditions, a large part of the genes localised in the Y chromosome ensure a successful spermatogenesis process throughout life, starting from puberty.

Microdeletion syndrome in the AZF region results in markedly impaired spermatogenesis or its complete arrest. The clinical picture in such patients is typically characterised by azoospermia or severe oligospermia, which may be the cause of male infertility.

Molecular diagnosis of the genetic status of the Y chromosome microdeletion syndrome plays the key role in determining the factor of the male infertility within the area of reproductive medicine. The result of the diagnosis determines the future steps for the patients who wish to become parents.

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