DAZ Gene (Y Microdeletion)
Also known as: DAZ Deletion PCR« Back to test list
Deletion of one or more of a cluster of DAZ genes on the Y chromosome is associated with azoospermia. DAZ gene deletions are inherited in a Y-linked fashion. This test provides diagnostic information.
An abnormal result in an affected man is diagnostic, and may have implications for immediate male relatives. However as males with a DAZ gene deletion are often infertile, the deletion may not be detected in an affected patient’s father.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
PCR analysis of DAZ gene regions of the Y chromosome to detect deletions.
This test is usually requested by a fertility specialists or clinical geneticist.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.
Consider other genetic risk factors for male infertility (CFTR gene mutations, including 5T variant).