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).
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.
6 - 14 days
- Y Microdeletion
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.
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.