Male fertility genetics
Y Chromosome Microdeletion Testing
The Y chromosome contains several regions that are important for normal sperm production. Small missing sections of genetic material, known as Y chromosome microdeletions, can interfere with spermatogenesis and are recognised genetic causes of severe male-factor infertility.
- Identifies a recognised genetic cause of severe male-factor infertility
- Relevant when sperm production is significantly impaired
- Can inform fertility treatment and reproductive options
What's included
What this test analyses.
- Regions of the Y chromosome important for normal sperm production
Who may benefit from this test?
Testing may be particularly relevant in men with:
- Azoospermia
- Severe oligozoospermia
- Significantly impaired sperm production
- Unexplained severe male-factor infertility
Why this test matters
Identifying a Y chromosome microdeletion can provide useful information when discussing fertility treatment and reproductive options.
Because some Y chromosome abnormalities may potentially be transmitted to male offspring through assisted reproduction, appropriate specialist interpretation and genetic counselling may also be recommended.
Male Fertility Genetics at MDC
Male fertility assessment should not always stop at a conventional semen analysis.
Where clinically appropriate, MDC can combine genetic investigation with a broader male fertility assessment including:
- Comprehensive semen analysis
- Sperm DNA fragmentation testing
- Male fertility hormone profiles
- Testosterone and reproductive hormone assessment
- Male fertility blood testing
- Ultrasound investigations where clinically indicated
- Y chromosome microdeletion testing
- Advanced male infertility genetic testing
- Urology and andrology consultation
This allows genetic results to be considered alongside the patient's wider fertility picture rather than being viewed in isolation.
Important information
Genetic screening cannot eliminate all genetic or reproductive risk. A negative carrier screening result significantly reduces the likelihood of carrying the conditions investigated but does not exclude all genetic disorders. The clinical significance of genetic findings can vary, and some results may require interpretation by an appropriately qualified clinician or genetic counsellor. Genetic testing should be considered alongside medical history, family history and other fertility investigations.
