DAZ/SRY Gene Analysis Common Deletions
| Label Mnemonic: | YCM |
| Epic code: | LAB4297 |
| Downtime form: | Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
 |
| Lavender top tube 3 mL (EDTA) |
Minimum:
Preferred Minimum: 3 mL whole blood
Absolute Minimum: 1 mL whole blood
Absolute Minimum: 1 mL whole blood
Rejection Criteria:
Serum. Frozen specimens. Severely hemolyzed specimens.
Turn Around
Time:
7-10 days upon receipt at reference laboratory
Reference Range:
By report
Interpretive Data:
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 percent 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 percent for men with non-obstructive azoospermia or severe oligospermia.br /> Methodology: Multiplex polymerase chain reaction (PCR) followed by electrophoresis.
Analytical Sensitivity and Specificity: Greater than 99 percent.
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 percent 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 percent for men with non-obstructive azoospermia or severe oligospermia.br /> Methodology: Multiplex polymerase chain reaction (PCR) followed by electrophoresis.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Comments:
This mailout test requires pathologist approval for orders during
inpatient encounters. Mailouts staff will not process order without
approval. The pathologist covering mailouts approval can be reached at
pager #3724. If approval is given, the name of the pathologist can be
selected in the drop-down menu to the right of the approval warning in
Epic when ordering the test.
Test
Limitations:
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.
Methodology:
Polymerase Chain Reaction/Electrophoresis
CPT Code:
81403