Y-chromosome microdeletion (azoospermia)

Test code

GMY

Specimen

3 mL EDTA blood

Container

Purple-top (EDTA) tube

Special instructions

Nil

Collection

Nil

Causes for rejection

Frozen specimen; clotted specimen; use of improper anticoagulant; hemolysis

Description of analysis

DNA microdeletion analysis of the three sub-regions (AZFa, AZFb & AZFc) in the azoospermia factor (AZF) loci on the long arm of the Y chromosome

Test methodology

DNA is extracted from sample and subjected to multiplex polymerase chain reaction (PCR) amplification. The amplified products are analyzed by agarose gel electrophoresis

Limitation

The Y chromosomal microdeletion test can only detect complete ablation of the tested region. However, the possibility of mosaicism and partial deletion of the AZF loci cannot be ruled out in non-deleted situation

Storage instruction

Specimen should be kept at 4°C

Reference

EAA/EMQN best practice guideline for molecular diagnosis of y-chromosomal microdeletions. State of the art (2004)

QUESTIONS?

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