Clinical significanceClinical indicationsSample typePreparation

Clinical significance
Y chromosome microdeletions are the second most common genetic cause of failed sperm production in infertile men. They are found in about 2-10% of infertile men.
The male-specific region of the Y chromosome (MSY) where the deletions are found has been divided into three regions called AZFa, AZFb and AZFc (where AZF stands for azoospermia factor). Microdeletions most often involve the AZFc region (about 80%). In recent years testing for these microdeletions has become very important in the diagnosis of infertile men.

Clinical indications
Infertility due to azoospermia or oligospermia

Sample type
The patient must have a blood sample taken.

Preparation
Fasting is not required