- Our Male Infertility Panel is comprised of the following two tests:
- Chromosome Analysis
- Y Chromosome Microdeletion (YCMD) Analysis
- Each test can be ordered independently if both tests are not desired as the Male Infertility Panel.
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).
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.
- 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.
- 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.
- Male Infertility In: Sabanegh, E, Agarwal, A, Campbell-Walsh Urology. 10th ed. New York, NY: Elsevier Health Sciences; 2011: 616-647.
- 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.