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INFERTILITY-MALE, Y CHROM DNA
Test Code512056
Alias/See Also
"AZF Testing Reflex
Azoöspermia Reflex
Normal Chromosomes Reflex to Y Deletion
Oligospermia Reflex
Y Deletion Reflex
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Azoöspermia Reflex
Normal Chromosomes Reflex to Y Deletion
Oligospermia Reflex
Y Deletion Reflex
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CPT Codes
81479
Preferred Specimen
"Whole blood
7 mL (2 mL pediatric)
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7 mL (2 mL pediatric)
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Minimum Volume
"3 mL
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Instructions
"The patient's name, age, and relevant clinical history should be included on the request form.
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Transport Container
"Lavender-top (EDTA) tube or yellow-top (ACD) tube
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Transport Temperature
room temp
Specimen Stability
"Maintain specimen at room temperature. Do not freeze.
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
"Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
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Methodology
"Polymerase chain reaction (PCR) to detect the presence/absence of long-arm Y chromosome loci (DAZ, SPGY, DYS209, DYS224, DYS273, DYS275). "
Limitations
"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.
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Clinical Significance
"Determine the genetic basis for oligospermia or azoöspermia. Azoöspermia may also be associated with cystic fibrosis mutations, primarily the 5T allele.
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.
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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.
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