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Order Code YMCRO Y Chromosome Microdeletions, Molecular Detection, Varies

Useful For

Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility

Genetics Test Information

Tests for the presence of microdeletions in the AZFa, AZFb, and AZFc regions of the Y chromosome.

Method Name

Polymerase Chain Reaction (PCR)

Reporting Name

Y Microdeletion

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



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 whole blood specimen in original tube. Do not aliquot.


Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Method Description

Multiplex polymerase chain reaction and agarose gel electrophoresis are used to test DNA for the presence of microdeletions in the AZFa, AZFb, and AZFc regions of the Y chromosome.(Simoni M, Bakker E, Krausz C: EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004 Int J Androl 2004;Aug 27[4]:240-249)

Day(s) Performed

Wednesday

Performing 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)

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)

Specimen Minimum Volume

1 mL