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Infertility−Male, Y Deletion Analysis

CPT: 81479
Updated on 01/29/2020
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  • AZF Testing Reflex
  • Azoöspermia 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

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.

Expected Turnaround Time

7 - 14 days

Specimen Requirements


Whole blood


7 mL (2 mL pediatric)

Minimum Volume

3 mL


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

Test Details


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).

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 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. 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. 9023089
Vogt PH, “Human Y Chromosome Deletions in Yq11 and Male Fertility,” Adv Exp Med Biol, 1997, 424:17-30. 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):933-43.8817327


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
512053 Infertility-Male, Y Chrom DNA 35456-3 512051 Infertility-Male, Y Chrom Anal 35456-3
512053 Infertility-Male, Y Chrom DNA 35456-3 511945 PDF 51969-4

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