Y-Chromosome Microdeletion testing is the use of Polymerase Chain Reaction (PCR) to detect the presence of microdeletions on the Y chromosome. This test is done by running markers inside the AZF regions on the long arm of chromosome Y.
The American Urology Association (AUA) recommends testing for Y microdeletions as part of the routine diagnostic workup of men who present with azoospermia and severe oligozoospermia.
Y-microdeletions are considered the second most established genetic cause of male infertility after Klinefelter syndrome. Testing for Y-microdeletion is beneficial as it can help infertility specialists make better-informed decisions regarding the right fertility care for couples.
In case any microdeletion is detected in the patient’s sample, the deleted region will be clearly specified in the genetic report.
Couples who receive an abnormal result are advised to go for genetic counseling to explore new fertility options, depending on their case.