Test Overview
Direct Mutation Analysis by Polymerase Chain Reaction (PCR)
Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility.
Normal (absence of deletions in the regions of the Y chromosome under test).
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
A positive result (presence of a deletion) does not necessarily mean that this is the cause of the infertility or azoospermia in this patient. A negative result (absence of microdeletions) does not rule out the presence of other genetic or nongenetic factors that may be the cause of infertility or azoospermia.
Test Details
6 - 14 days
Specimen Requirements
Collect specimen in a yellow top (ACD) or lavender top (EDTA) tube. Send intact whole blood at room temperature. Specimen must be received by performing laboratory within 96 hours of collection. Send a completed Mayo Medical Laboratories "Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet" with the specimen.
Additional Information
DNA is tested for the presence of microdeletions in the AZFa, AZFb, and AZFc regions of the Y chromosome. The particular markers used in this assay should detect over 90% of the deletions in the 3 AZF regions. A genetic consultation is recommended for all patients undergoing this testing. Additional consultation with a reproductive endocrinologist/urologist
to discuss reproductive options is recommended when a deletion is detected. Test sent to Mayo Medical Laboratories.