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CHROMOSOME ROUTINE RFX DAZ
Message"Pertinent medical findings must accompany request for chromosome analysis. Include the patient's name, age, and suspected diagnosis.
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Test Code
52021
Alias/See Also
"AZF Testing Reflex
Azoospermia Reflex
DAZ Reflex
Male Infertility Chromosome Reflex to Yq PCR
Oligospermia Reflex
Y Deletion Reflex
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Azoospermia Reflex
DAZ Reflex
Male Infertility Chromosome Reflex to Yq PCR
Oligospermia Reflex
Y Deletion Reflex
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CPT Codes
88230; 88262
Preferred Specimen
"Blood Neonates: 1-2 mL each tube; adults: 5 mL each tube
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Minimum Volume
"2 mL each tube
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Instructions
"Using sterile technique, collect 10 of blood into a sodium heparin tube or syringe. Invert the tube several times to prevent coagulation. Specimens must be sent the same day as collected and arrive in the laboratory Monday through Saturday and within 72 hours of collection.
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Transport Container
"Green-top (heparin) tube and lavender-top (EDTA) tube
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Transport Temperature
room temp
Specimen Stability
"Specimen should be delivered to the laboratory immediately. Maintain specimen at room temperature. Specimens may be refrigerated if there is a delay in shipment. Do not freeze.
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
"Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen.
(Not for females)
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(Not for females)
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Methodology
"Routine lymphocyte culture, chromosome analysis of 20 metaphases with preparation and analysis of multiple karyotypes. Other banded preparations are made as needed. Fluorescence in situ hybridization (FISH) applied as needed. If chromosomes are normal, reflex to polymerase chain reaction (PCR) to detect the presence/absence of long-arm Y chromosome loci (DAZ, SPGY, DYS209, DYS224, DY273, DYS275). "
Clinical Significance
"Evaluate infertility, hypogonadism, Klinefelter syndrome, balanced or unbalanced chromosomal rearrangements which correlate with oligospermia/azoospermia
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