Y Chromosome Microdeletion Analysis



Test Guide

Small deletions of the Y chromosome are found in 5-13% of men who are otherwise healthy but have abnormal sperm shape or movement, a low sperm count, or no sperm.


This PCR-based analysis assesses 14 different regions along the length of the Y chromosome and will detect all of the microdeletions associated with male infertility, including the AZFa and AZFb/c regions. This analysis exceeds the minimum requirements outlined by the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN).

Limitations of Methodology: Y chromosome microdeletion analysis via PCR will not detect point mutations or small intragenic mutations. Such mutations have been reported but are a very rare cause of male infertility.

Specimen Requirements

Specimen Types:

  • Peripheral Blood: 3-4 ml in EDTA (lavender top vacutainer).
  • DNA: 3-10 micrograms of DNA suspended in water.  We can only accept DNA isolated in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the College of American Pathologists and/or the Centers for Medicare and Medicaid Services.
  • Saliva: 0.5mL in Oragene•ONE(ON-500) Collection Kit.

    Keep samples at room temperature.

Special Instructions

Return of Results:  Results will be faxed to the number(s) provided on the requisition form.

Turnaround Time: 2 to 3 weeks from receipt of adequate sample.

How to Order

Please follow these steps:

Test kits and return shipping are available, as needed.  Please call 206-598-8684 to request test kits.

1. Complete CGL Constitutional Test Request Form, including billing information.
2. Collect sample.
3. Deliver to Clinical Genomics Laboratory as soon as possible.  Specimens are accepted Monday through Friday.

Ship sample overnight to:

Clinical Genomics Laboratory
University of Washington Health Sciences Building
Room H-561
1959 NE Pacific St
Seattle, WA 98195

Note: Orders cancelled after they have been submitted will incur a prorated charge based on the work that has been completed as of the time of cancellation.

CPT Code & Cost

$ Please call the lab at (206) 598-8684 for pricing.

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