Y Chromosome Microdeletion
Also known as: Y CHROM
Use
This test aids in determining the cause of azoospermia or oligospermia in males and helps predict the effectiveness of assisted reproductive technologies in men with Y chromosome microdeletions. Y chromosome microdeletions are associated with spermatogenic failure and are characterized by azoospermia, severe to moderate oligospermia, or abnormal sperm morphology/motility in men. The test assesses five common Y chromosome microdeletions: AZFa, AZFb, AZFc, AZFbc, and AZFabc.
Special Instructions
Counseling and informed consent are recommended for genetic testing. New York Clients must submit informed consent with the sample. Preferred transport temperature is refrigerated, but ambient is also acceptable. The test has not been FDA cleared or approved but is performed in a CLIA certified laboratory.
Limitations
Diagnostic errors may occur due to rare sequence variations. The test does not detect mutations within individual genes in the AZF regions or determine breakpoints of identified microdeletions. Male infertility due to causes other than the Y chromosome microdeletions tested has not been excluded. The test's clinical sensitivity is estimated at 5 to 10 percent for men with non-obstructive azoospermia or severe oligospermia.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 31208-2
- 35456-3
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) or pink (K2EDTA). Yellow (ACD solution A or B) also acceptable.
Storage Instructions
Preferred transport temp: Refrigerated. Also acceptable: Ambient.
Causes for Rejection
Severely hemolyzed specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 month |
| Frozen | Unacceptable |