Y-chromosome microdeletions (AZF)
Pinpoint the genetic cause of male infertility.
This test detects microdeletions on the long arm of the Y chromosome, specifically within the azoospermia factor (AZF) regions. It is primarily requested for men with severe oligozoospermia or non-obstructive azoospermia who are undergoing fertility investigation, and for those considering assisted reproduction. The analysis uses a validated multiplex PCR-hybridisation technique to identify the presence or absence of specific sequence-tagged sites within the AZF regions.
The Y chromosome carries genes essential for spermatogenesis. Deletions in three distinct AZF sub-regions (AZFa, AZFb, and AZFc) are associated with varying degrees of spermatogenic failure. This test screens for the most common microdeletions in these regions.
AZF Region Deletions
- AZFa (proximal Yq11)
- AZFb (middle Yq11)
- AZFc (distal Yq11)
Why it matters
Identifying a Y-chromosome microdeletion provides a definitive genetic explanation for male infertility, informs prognosis, and guides clinical management. The specific AZF region deleted correlates with the likelihood of retrieving sperm for intracytoplasmic sperm injection (ICSI) and the risk of transmitting the deletion to male offspring. This information is crucial for counselling and family planning.
Y-Chromosome Microdeletions
- AZFa region
- AZFb region
- AZFc region
Referral required
Important Clinical Information:
This test is a screening tool to monitor and support your overall health. It does not replace your GP or Consultant.
Always discuss your test results, especially any abnormal results, with your GP, who can interpret them in the context of your medical history and overall health.
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