Male Infertility Panel

Panel description


Test details

Our Male Infertility Panel includes both Chromosome Analysis and Y Chromosome Microdeletion (YCMD) Analysis. This panel uses a standard methodology for high resolution chromosome analysis (650 band length or higher) in combination with a multiplex PCR approach. The combination of these tests can detect both structural and numerical chromosomal anomalies and deletions in the Y chromosome including the three azoospermic regions (AZFa, ASFb, and AZFc).

Advantages

Influences Clinical Management:

  • Men with deletions in AZFa, AZFb, or AZFb+c are poor candidates for sperm retrieval procedures.1
  • Alternatively, men with deletions in AZFc causing azoospermia have a 50% success rate for sperm retrieval.2
  • Chromosome Analysis provides the following detection:
  • changes in chromosome number, including aneuploidy and triploidy
  • large scale deletions and duplications
  • balanced and unbalanced structural rearrangements
  • whole genome analysis
    • Men who carry structural chromosome rearrangements and their partners may be offered prenatal genetic testing, preimplantation genetic screening, or alternate reproductive strategies.

Determines Risks to Offspring:

  • 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.2,3
  • Men with structural chromosome abnormalities may have an increased risk for miscarriage and children with chromosome abnormalities or congenital defect.

Limitations

  • This panel cannot identify all genetic causes of infertility
  • YCMD is not whole genome analysis
  • YCMD will not detect copy number variants (CNVs) in other chromosomes
  • Chromosome Analysis will not detect small copy number changes, microdeletions/duplications, single gene mutations, uniparental disomy (UPD), or low level mosaicism.

  1. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions .Hum Reprod. 2003 18(8):1660-1665.
  2. Male Infertility In: Sabanegh, E, Agarwal, A, Campbell-Walsh Urology. 10th ed. New York, NY: Elsevier Health Sciences; 2011: 616-647.
  3. Stahl PJ, Masson P, Mielnik A, Marean MB, Schlegel PN, Paduch DA. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertility and Sterility. 2010, 94(5): 1753-1756.