Test name: Y-Chromosome Microdeletion (YCMD) for male infertility
Also known as: Molecular Detection Y-Chromosome Microdeletion
- Y Chromosome infertility GeneReviews™
- Small testes or cryptorchidism
- Non-obstructive Spermatogenic failure
- Severe oligospermia (<5-10 million sperm/ml)
- Otherwise unexplained male factor infertility
- 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 AZFcregions. 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*.
- Chromosome Analysis can be ordered simultaneously with Y Chromosome Microdeletion to comprise the Male Infertility Panel.
- 5-10% of patients have chromosome abnormalities such as Klinefelter syndrome*. Chromosome Analysis will detect balanced/unbalanced chromosome rearrangements.
- If also ordering Postnatal Chromosome Analysis, include 2-3 ml peripheral blood in a sodium tube (green top), in addition to the YCMD requirement.
*Reference Sources: (1) American Society for Reproductive Medicine, Fertil Steril 2008;90:S74-7
Specimen requirements: Test kits are available – please contact the laboratory
- Blood: One 3-5 ml EDTA (purple top) tube
CPT codes: 81403
See Postnatal Chromosome Analysis CPT codes if ordered in conjunction with YCMD, as part of Male Infertility Panel
Pricing: Contact the laboratory billing staff for current costs
Required forms: Male Infertility Test Request Form
Turn-around time: Results are typically available in 10-14 days
- 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.
Step-by-step ordering instructions:
1) Access the male infertility test request form on the Human Genetics Laboratory website.
2) Complete the form. Under TEST REQUESTED, mark the box next to the Male Infertility Panel to order both the Chromosome Analysis and YCMD tests simultaneously. (Or, mark the box next to an individual test only.)
3) Provide any clinical information that may be important for interpretation.
4) Obtain insurance pre-authorization when necessary; forms available.
5) Following HGL shipping & handling requirements, send completed test request form and specimen at room temperature within 24 hours of collection.