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Y Chromosome Microdeletion Analysis



Microdeletions in the azoospermatic factor (AZF) region of the Y chromosome account for 10-15 percent of azoospermia and 5-10 percent of oligospermia in men. Y chromosome microdeletion analysis examines four regions of the Y chromosome – AZFa, AZFb, AZFc and AZFd – to help identify causes of infertility in males.

Test Details


This test detects microdeletions in three azoospermia factor chromosome regions (Yq11.23) that contain genes with a role in spermatogenesis. Deletions of all or part of these regions, designated AZFa, AZFb, and AZFc, cause variable clinical symptoms in 5% to 13% of infertile men, ranging from azoospermia and Sertoli cell-only syndrome to severe or mild oligospermia. 

Pregnancy Week

0–13 Weeks
14–21 Weeks
22+ Weeks

Discipline Code

CG (Cytogenetics)

Specimen Requirements


Whole blood


20 mL 


Lavender-top (EDTA) tube or yellow-top (ACD-A) tube




Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen

Storage Instructions

 Maintain specimen at room temperature.

Additional Information


False-positive and false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.



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