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Test ID: 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 Microdeletion

Specimen Type

Varies


Shipping 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 Mayo Medical Laboratories 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.

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Stahl PJ, Masson P, Mielnik A, et al: A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil Steril 2009 Nov 5

2. Shalender Bhasin: Approach to the infertile man. J Clin Endocrinol Metab 2007 June 92(6):1995-2004

3. Ferlin A, Arredi B, Speltra E, et al: Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy. J Clin Endocrinol Metab 2007 Mar;92(3):762-70

Day(s) and Time(s) Performed

Friday; 2 p.m.

Analytic Time

5 days

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 In Process
53366 Interpretation In Process
53367 Specimen 31208-2
53368 Source 31208-2
53369 Released By No LOINC Needed

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

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular