Y Chromosome Microdeletions, Molecular Detection, Varies
Use
Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility. Tests for the presence of microdeletions in the AZFa, AZFb, and AZFc regions of the Y chromosome. Yq microdeletions are identified in approximately 3% of infertile men and are a frequent cause of spermatogenic failure.
Special Instructions
Not provided.
Limitations
This assay will not detect all causes of infertility or azoospermia. The absence of a detectable microdeletion does not rule out other genetic or nongenetic factors. Errors may occur if information is inaccurate or incomplete. Rare variants may lead to false-negative or false-positive results. Genetic consultation is recommended for patients undergoing this test.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 35456-3 - Y Chrom Del Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
See Specimen Required
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogeneic donor will interfere with testing.
Storage Instructions
Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.