TEST NAME: Male Infertility Panel / Y Chromosome Microdeletion (YCMD)
Also known as: Molecular Detection Y Chromosome Microdeletion
INDICATIONS FOR TESTING:
- Y Chromosome infertility GeneReviews™
- Non-obstructive spermatogenic failure
- Severe oligospermia (<5-10 million sperm/ml)
- Small testes or cryptorchidism
- Otherwise unexplained male factor infertility
Our laboratory recommends the Comprehensive Male Infertility Panel, which includes:
NOTE: Each test can be ordered independently if both tests are not desired as the panel.
Y Chromosome Microdeletion (YCMD):
- For the detection of microdeletions in the male-specific or sex determining regions on the Y chromosome.
- This testing method utilizes polymerase chain reaction (PCR) to detect microdeletions in the azoospermia factor (AZF) region on the Y chromosome, specifically the AZFa, AZFb, and AZFc regions. 20 primer sets amplify sequences across the entire male specific (MSY) and the sex-determining (SRY) regions on the Y chromosome.
- This testing identifies a Y chromosome microdeletion in approximately 5% of oligospermic men, and 10-15% of azoospermic men*.
- For the detection of structural chromosome abnormalities, including balanced and unbalanced rearrangements.
- 5-10% of patients have chromosome abnormalities such as Klinefelter syndrome*. Chromosome Analysis will detect balanced/unbalanced chromosome rearrangements.
*Reference Sources: (1) American Society for Reproductive Medicine, Fertil Steril 2008;90:S74-7
- Men with deletions in AZFa, AZFb, or AZFb+c are poor candidates for sperm retrieval procedures.
- Alternatively, men with deletions in AZFc causing azoospermia have a 50% success rate for sperm retrieval.
- Men who carry structural chromosome rearrangements and their partners may be offered prenatal genetic testing, preimplantation genetic screening, or alternate reproductive strategies.
- Male offspring of men with AZFc deletions conceived following sperm retrieval will inherit their father’s microdeletion and will have a high risk for infertility.
- Men with structural chromosome abnormalities may have an increased risk for miscarriage and children with chromosome abnormalities or congenital defects.
- This panel cannot identify all genetic causes of infertility
- Y chromosome microdeletion analysis is not whole genome analysis.
- A normal or negative result indicates that neither a chromosome abnormality not a Y chromosome microdeletion is likely the cause of the patient’s infertility.
- An abnormal or deleted result indicates that studies detected a possible cause for the patient’s infertility.
REQUIRED FORMS: This test can be ordered using ONE of the following two forms:
OTHER FORMS: Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses)
SPECIMEN COLLECTION & SHIPPING
- Blood: 3-5 ml in an EDTA tube (purple top) for YCMD
- Blood: 3-5 ml in a sodium heparin tube (green top) for Chromosome Analysis
- YCMD: 81403
- Chromosome Analysis: 88230(x2), 88261, 88280(x2), 88285(x3), 88289, 88291
PRICING: Contact the laboratory billing staff for current costs
TURN-AROUND-TIMES: Results are typically available in 10-14 days.
LINKS and REFERENCES:
- American Society for Reproductive Medicine, Fertil Steril 2008;90:S74-7.
- Bianco, et al., Andrologia 2011;43:145-148.
- Silber, SJ., Fertil Steril 2011;95:2439-48.
- Stahl, PJ., et al. Fertil Steril 2010;94(5):1753-5.