Infertility-Male, Y Deletion Analysis

Determine the genetic basis for oligospermia or azoospermia. Azoospermia may also be associated with cystic fibrosis mutations, primarily the 5-T 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.

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.

Habermann B, Mi HF, Edelmann A, et al, “DAZ (Deleted in Azoospermia) Genes Encode Proteins Located in Human Late Spermatids and in Sperm Tails,” Hum Reprod, 1998, 13(2):363-9. PubMed 9557839

Pryor JL, Kent-First M, Muallem A, et al, “Microdeletions in the Y Chromosome of Infertile Men,” N Engl J Med, 1997, 336(8):534-9. PubMed 9023089

Vogt PH, “Human Y Chromosome Deletions in Yq11 and Male Fertility,” Adv Exp Med Biol, 1997, 424:17-30. PubMed 9361758

Vogt PH, Edelmann A, Kirsch S, et al, “Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11,” Hum Mol Genet, 1996, 5(7):933-43. PubMed 8817327