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Chromosome Analysis, Whole Blood (Constitutional) With Reflex for Y Deletion Analysis
CPT:
Contact CPT coding department at 800-222-7566, ext 6-8400.
Synonyms
- AZF Testing Reflex
- Azoöspermia Reflex
- DAZ Reflex
- Male Infertility Chromosome Reflex to Yq PCR
- Oligospermia Reflex
- Y Deletion Reflex
Special Instructions
Pertinent medical findings must accompany request for chromosome analysis. Include the patient's name, age, and suspected diagnosis.
Expected Turnaround Time
25 - 28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
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25 - 28 days |
Related Documents
Specimen Requirements
Specimen
Whole blood
Volume
Neonates: 1 to 2 mL each tube; adults: 5 mL each tube
Minimum Volume
2 mL each tube
Container
Green-top (heparin) tube and lavender-top (EDTA) tube
Collection
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.
Storage Instructions
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.
Causes for Rejection
Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen
Test Details
Use
Evaluate infertility, hypogonadism, Klinefelter syndrome, balanced or unbalanced chromosomal rearrangements which correlate with oligospermia/azoospermia
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).
Contraindications
Not for females
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):363-369. 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):534-539. 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):933-943. 8817327
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 511075 | Chromosome Routine Rfx DAZ | 512543 | Specimen Type | 31208-2 | ||
| 511075 | Chromosome Routine Rfx DAZ | 512544 | Cells Counted | 62361-1 | ||
| 511075 | Chromosome Routine Rfx DAZ | 512545 | Cells Analyzed | 62360-3 | ||
| 511075 | Chromosome Routine Rfx DAZ | 512546 | Cells Karyotyped | 55199-4 | ||
| 511075 | Chromosome Routine Rfx DAZ | 512547 | GTG Band Resolution Achieved | 62358-7 | ||
| 511075 | Chromosome Routine Rfx DAZ | 512548 | Cytogenetic Result | 29770-5 | ||
| 511075 | Chromosome Routine Rfx DAZ | 511023 | Interpretation | 62365-2 | ||
| 511075 | Chromosome Routine Rfx DAZ | 511024 | Director Review: | 48672-0 | ||
| 511075 | Chromosome Routine Rfx DAZ | 510463 | Reflex | N/A | ||
| 511075 | Chromosome Routine Rfx DAZ | 512123 | 51967-8 |
| Reflex Table for Reflex | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 512056 | Infertility-Male, Y Chrom DNA | 512052 | Infertility-Male, Y Chrom Anal | 35456-3 | |
| Reflex Table for Reflex | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 512056 | Infertility-Male, Y Chrom DNA | 510488 | Infertility-Male,Y Chrom DNA | N/A | |
| Reflex Table for Reflex | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 512056 | Infertility-Male, Y Chrom DNA | 511945 | 51969-4 | ||
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CPT Statement/Profile Statement
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf