Determine the genetic basis for oligospermia or azoöspermia. Azoöspermia may also be associated with cystic fibrosis mutations, primarily the 5T allele.
Detection of the following long-arm Y chromosome loci: DAZ, SPGY, DYS209, DYS224, DYS273, DYS275
Submit specimen in original collection tube; do not spin
Lavend (EDTA) tube
Yellow (ACD) tube
Frozen - NO
Frozen or hemolyzed specimen; improper container; quantity not sufficient for analysis
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.