Condition Description

Genes (0)


This test is performed on patients with azoospermia or oligospermia, as 3-30% of these men will have microdeletions in the Y-chromosome. The type of deletion present can determine the cause of infertility in some males, and have prognostic value in determining intervention. There are a total of four AZoospermic Factor (AZF) regions on the Y-chromosome: AZFa, AZFb, AZFc, and AZFd. These deletions in the Yq11 region are mostly undetectable by cytogenetic analysis.

Most cases of Y-chromosome microdeletions are new mutations. If transmitted, any child receiving the Y-chromosome will have the microdeletion. In other words, all sons will be affected.


Molecular analysis can detect the presence/absence of these deletions by PCR (using eighteen sequence tagged sites).

Detection and Reference Range

Over 99% of AZFa, AZFb, AZFc, and AZFd will be detected by this assay.
Reference Range
Qualitative assay.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with client services (
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

How to Order

Requisition Forms