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Y Chromosome Microdeletion Analysis

CPT: 81479

Expected Turnaround Time

7 - 28 days Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements


Specimen

Whole blood

Volume

20 mL

Container

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

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

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

Test Details


Use

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.

Limitations

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.

Pregnancy Week

0-13 Weeks
14-21 Weeks
22+ Weeks