Y-Chromosome Microdeletion
Test Mnemonic
YCMICR
CPT Codes
- 81403 - QTY (1)
Performing Laboratory
ARUP
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood | EDTA (Lavender) | Refrigerated | Do NOT freeze. Send to Cleveland Clinic Laboratories on the day of collection. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood | Sodium or Lithium heparin (Green) | Refrigerated | Do NOT freeze. Send to Cleveland Clinic Laboratories on the day of collection. | |
| 3 mL | Whole blood | Sodium citrate (Lt. Blue) | Refrigerated | Do NOT freeze. Send to Cleveland Clinic Laboratories on the day of collection. | |
| 3 mL | Whole blood | ACD A or B (Yellow) | Refrigerated | Do NOT freeze. Send to Cleveland Clinic Laboratories on the day of collection. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Days Performed
Tue, Fri
Turnaround Time
8 - 11 days
Methodology
| Name | Description |
|---|---|
| Electrophoresis | |
| Polymerase Chain Reaction (PCR) |
Reference Range
Special Info
Counseling and informed consent are recommended for genetic testing. Do NOT freeze. Serum, frozen specimens, and severely hemolyzed specimens are unacceptable. This test is New York DOH approved.
Clinical Info
Aids in determining the cause of azoospermia or oligospermia and helps predict effectiveness of assisted reproductive technologies in men with Y chromosome microdeletions. Background Information: Y Chromosome Microdeletion. Characteristics: Y chromosome microdeletions are typically characterized by azoospermia, severe to moderate oligospermia, or abnormal sperm morphology/motility in men with a normal physical evaluation. Assisted reproductive techniques are contraindicated for men carrying AZFa, AZFb, AZFbc or AZFabc microdeletions, which are classically associated with spermatogenic failure. Prevalence: 1 in 2,000 to 3,000 males carry Y chromosome deletions/microdeletions. Penetrance: Approaches 100% in males; variable expression may result in intra-familial variation of fertility in men with an identical microdeletion. Inheritance: Y-linked; microdeletions are typically de novo. Cause: Microdeletions of the Y chromosome azoospermia factor regions a, b or c (AZFa, AZFb or AZFc). Mutations Tested: Five common Y chromosome microdeletions: AZFa, AZFb, AZFc, AZFbc, and AZFabc. Clinical Sensitivity: Estimated at 5 to 10% for men with non-obstructive azoospermia or severe oligospermia. Methodology: Multiplex PCR followed by electrophoresis. Analytical Sensitivity and Specificity: Greater than 99%
Clinical Limitation
Diagnostic errors can occur due to rare sequence variations. Mutations within individual genes included in the AZF regions will not be detected. Breakpoints of identified microdeletions will not be determined. Male infertility, due to causes other than Y chromosome microdeletions tested, has not been excluded.