Male Infertility Panel / YCMD

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
    • Azoospermia
    • Severe oligospermia (<5-10 million sperm/ml)
  • Small testes or cryptorchidism
  • Otherwise unexplained male factor infertility

TESTING STRATEGY:
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.

TEST INFORMATION:

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*.

Chromosome Analysis:

  • 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

ADVANTAGES:

  • 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.

LIMITATIONS:

  • This panel cannot identify all genetic causes of infertility
  • Y chromosome microdeletion analysis is not whole genome analysis.

RESULTS:

  • 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

SPECIMEN REQUIREMENTS: 

  • 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

CPT CODES:

  • 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.
  • GeneReviews

 v14.1 

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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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