Sex Chromosome & Y-Chromosome Genetic Testing
Certain genetic investigations focus specifically on the sex chromosomes or the Y chromosome. Y-chromosome microdeletions can be associated with impaired sperm production and may be considered in selected men with severe male-factor infertility.
This testing helps identify deletions involving regions of the Y chromosome associated with spermatogenesis (sperm production), providing important information for fertility planning and counselling.
At National Path Lab (NPL), Y-chromosome microdeletion testing is available to support the evaluation of severe male-factor infertility.
- Health package
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- Health package
About Sex Chromosome & Y-Chromosome Genetic Testing
Causes & Risk Factors
Y-chromosome microdeletions are a specific genetic cause of male infertility, distinct from hormonal or anatomical causes:
• Sporadic genetic deletion — most Y-chromosome microdeletions arise spontaneously rather than being inherited from the father.
• Severe sperm production abnormality — testing is specifically relevant to men with azoospermia (absent sperm) or severe oligospermia (very low sperm count), rather than mild sperm abnormalities.
• Family history is uncommon — since affected men are typically infertile without assisted reproduction, microdeletions are rarely inherited from a father to son through natural conception.
Symptoms & When to Test
Y-chromosome microdeletion testing is indicated by specific semen analysis findings rather than physical symptoms.
• Azoospermia — complete absence of sperm in the ejaculate
• Severe oligospermia — very low sperm concentration on semen analysis
• Otherwise unexplained severe male-factor infertility
When Should You Consider Testing?
Testing is generally considered in men with severe male-factor infertility — specifically azoospermia or severe oligospermia identified on semen analysis — as part of a fertility specialist's structured infertility work-up, rather than for general infertility evaluation.
Why Tests Are Combined
Y-chromosome microdeletion testing is often combined with karyotyping in the male infertility work-up, because both chromosomal structural abnormalities and Y-chromosome microdeletions can cause similar presentations (severely reduced or absent sperm production), and distinguishing between them affects counselling and treatment options.
Hormonal testing (FSH, LH, testosterone) is typically performed alongside genetic testing, since hormonal causes of impaired sperm production need to be assessed and excluded as part of the same evaluation.
Results directly inform counselling for assisted reproduction — for example, if a man with a Y-chromosome microdeletion undergoes ICSI (intracytoplasmic sperm injection) successfully, any resulting male offspring would inherit the same microdeletion, which is important information for family planning discussions.
Tests Available at NPL
Test Code | Test | Clinical Relevance |
N0001 | Y-Chromosome Microdeletion Testing | Identifies deletions in specific regions of the Y chromosome (AZF regions) associated with impaired sperm production, in men with severe male-factor infertility. |
Y-chromosome microdeletion testing and karyotyping (performed on a blood sample) do not require fasting. Note that this testing is usually ordered after semen analysis — a separate test requiring sample collection at the clinic under controlled conditions, not as a home collection.
Home Sample Collection
NPL offers convenient home sample collection for Sex Chromosome & Y-Chromosome Genetic Testing blood tests, so you don't need to visit a lab in person.
→ Book your test online, via the NPL app, or by calling +977 1 5970147 and select a convenient time slot for home sample collection.
→ A certified and experienced NPL phlebotomist visits your home at the scheduled time, following strict hygiene and safety protocols.
→ Your sample is transported under controlled, monitored conditions to NPL's NABL ACCREDITED UNDER ISO 15189:2022 laboratory for processing.
→ Your digital report is delivered securely to your phone or email, along with access to download and share it as needed.
When to See a Doctor
• Azoospermia (absent sperm) identified on semen analysis
• Severe oligospermia (very low sperm count) identified on semen analysis
• Planning assisted reproduction (IVF/ICSI) with a diagnosis of severe male-factor infertility
Medical Disclaimer Y-chromosome microdeletion testing supports the evaluation of severe male-factor infertility but does not identify all possible genetic causes. Results should be interpreted by a fertility specialist together with semen analysis and hormonal evaluation. |