Infertility - Male, Y Deletion Analysis
| Infertility - Male, Y Deletion Analysis | | | |
| Number | | 512053 |
| CPT | | 83891; 83894 (x2); 83900; 83901 (x4); 83912 |
| Synonyms | | AZF Testing Reflex ; Azoospermia Reflex ; Normal Chromosomes Reflex to Y Deletion ; Oligospermia Reflex ; Y Deletion Reflex |
| Test Includes | | Detection of the following long-arm Y chromosome loci: DAZ, SPGY, DYS209, DYS224, DYS273, DYS275 |
| Special Instructions | | The patient's name, age, and relevant clinical history should be included on the request form. |
| Specimen | | Whole blood |
| Volume | | 7 mL whole blood (2 mL pediatric) |
| Minimum Volume | | 3 mL whole blood |
| Container | | Lavender-top (EDTA) tube or yellow-top (ACD) tube |
| Storage Instructions | | Maintain specimen at room temperature. Do not freeze. |
| Causes for Rejection | | Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container |
| Use | | Determine the genetic basis for oligospermia or azoospermia. Azoospermia may also be associated with cystic fibrosis mutations, primarily the 5T allele. |
| Methodology | | Polymerase chain reaction (PCR) to detect the presence/absence of long-arm Y chromosome loci (DAZ, SPGY, DYS209, DYS224, DYS273, DYS275). |
| Additional Information | | 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 azoospermia (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. |
| References | | 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. 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. Vogt PH, “Human Y Chromosome Deletions in Yq11 and Male Fertility,” Adv Exp Med Biol, 1997, 424:17-30. 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. |
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