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- AZF Testing Reflex
- Azoöspermia Reflex
- Normal Chromosomes Reflex to Y Deletion
- Oligospermia Reflex
- Y Deletion Reflex
Detection of the following long-arm Y chromosome loci: DAZ, SPGY, DYS209, DYS224, DYS273, DYS275
Determine the genetic basis for oligospermia or azoöspermia. Azoöspermia may also be associated with cystic fibrosis mutations, primarily the 5T allele.
Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.
Polymerase chain reaction (PCR) to detect the presence/absence of long-arm Y chromosome loci (DAZ, SPGY, DYS209, DYS224, DYS273, DYS275).
Genes associated with normal spermatogenesis are located on the proximal long arm of the Y chromosome (OMIM 601486). The loss of the proximal Y long arm has been reported in approximately 7% of infertile men. These de novo deletions occur during paternal meiosis. The deletions of the distal AZFc region are associated with oligospermia, whereas, more proximal deletions of the AZFa and AZFb regions are associated with azoöspermia (Sertoli cell-only syndrome). Klinefelter (47,XXY) syndrome and cystic fibrosis mutations (particularly the 5T allele) are also associated with azoospermia. Balanced chromosomal rearrangements are also associated with oligospermia.
7 mL (2 mL pediatric)
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
The patient's name, age, and relevant clinical history should be included on the request form.