Chromosome Y microdeletions

Home Chromosome Y microdeletions

Y chromosome microdeletions are the second more frequent genetic cause of male infertility (~1/4000 individuals) after Klinefelter syndrome. Their incidence is significantly higher in infertile men (5-10% of oligozoospermic and 10-15% of azoospermic men).

Microdeletions are usually detected in the Y chromosome region of azoospermia factor (AZF), which harbors genes that encode for proteins involved in sperm cell production and maturation.


Υ chromosome microdeletions are analysed through a multiplex PCR using STS markers that cover the entire AZF region, according to the guidelines of the European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN).

Sample type: Peripheral blood in EDTA

Time to result: 2 weeks