Y-chromosome microdeletions (AZF)
Pinpoint the genetic cause of male infertility.
What’s tested
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Mondays onlyThis 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.
Referral required
- Identification: Photo ID (Passport or Driving Licence) is only required if you need your report for official, employment, visa/travel, premarital, or Identity-Verified Certificate (IVS) purposes (not required for personal health & wellness testing).
This test provides an official, quality-assured laboratory report with reference ranges. These results are for clinical information and do not replace your GP or consultant. Always discuss abnormal results with your GP or specialist in the context of your medical history.
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