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HelpTest Code YMCRO Y Chromosome Microdeletions, Molecular Detection
Useful For
Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility
Method Name
Polymerase chain reaction (PCR) is used to test DNA for the presence of microdeletions of the Y chromosome (region AZFa, AZFb, and AZFc).
Reporting Name
Y MicrodeletionSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of draw.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Clinical Information
Yq microdeletions involving some or all of the azoospermic factor (AZF) region are the most frequently identified cause of spermatogenic failure in chromosomally normal men with nonobstructive azoospermia (3%-15%) or severe oligospermia (6%-10%). Among unselected infertile males, the overall frequency of Yq microdeletions is approximately 3%. The relative frequency of Yq microdeletions makes the evaluation for them an important aspect of the diagnostic work up in infertile males, especially those with azoospermia or severe oligospermia.
Most cases of Yq microdeletions occur de novo, and due to the consequential infertile phenotype, they are typically not transmitted. However, in cases where assisted reproductive technology (example: testicular sperm extraction followed by intracytoplasmic sperm injection) is used to achieve viable pregnancy, all male offspring born to a microdeletion carrier will carry the deletion and may be infertile.
Men testing positive for 1 or more microdeletions who are enrolled in an in vitro fertilization treatment program may wish to consider alternative options to intracytoplasmic sperm injection (eg, donor sperm) and consultation with an experienced reproductive endocrinologist and medical geneticist is recommended.
Most Y microdeletions are the result of homologous recombination between repeated sequence blocks. Testing for deletions involves investigating for the presence or absence of markers located within nonpolymorphic regions of the AZF region.
Day(s) and Time(s) Performed
Friday; 2 p.m.
Analytic Time
5 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81403-DAZ/SRY (deleted in azoospermia and sex determining region Y) (eg, male infertility), common deletions (eg, AZFa, AZFb, AZFc, AZFd)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| YMCRO | Y Microdeletion | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 53364 | Result Summary | 50397-9 |
| 53365 | Result | 82939-0 |
| 53366 | Interpretation | 69047-9 |
| 53367 | Specimen | 31208-2 |
| 53368 | Source | 31208-2 |
| 53369 | Released By | 18771-6 |
NY State Approved
YesSpecial Instructions
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.Forms
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
Specimen Minimum Volume
1 mL