Chromosome Analysis, Whole Blood (Constitutional) With Reflex for Y Deletion Analysis
Use
This test evaluates infertility, hypogonadism, Klinefelter syndrome, and balanced or unbalanced chromosomal rearrangements that correlate with oligospermia/azoospermia.
Special Instructions
Pertinent medical findings should accompany the request for chromosome analysis, including the patient's name, age, and suspected diagnosis. It is imperative to follow the specific specimen collection procedures, which involve using sterile techniques and proper anticoagulants to ensure specimen suitability for analysis.
Limitations
The test may produce false positive or negative results due to various factors including genetic variants, recent blood transfusions, bone marrow transplantation, or incorrect representation of familial relationships. These potential limitations underscore the need for careful interpretation of results, possibly necessitating confirmatory tests or additional analysis for accurate diagnostic conclusions.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
LOINC Codes
- 77314-3
- 31208-2
- 62361-1
- 62360-3
- 55199-4
- 62358-7
- 29770-5
- 62365-2
- 48672-0
- 51969-4
Result Turnaround Time
25-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (adults), 2 mL (neonates) for each tube
Minimum Volume
2 mL each tube
Container
Green-top (sodium heparin) tube and lavender-top (EDTA) tube
Collection Instructions
Using sterile technique, collect 5 mL of whole blood into a green-top (sodium heparin) tube or syringe and collect 5 mL whole blood into a lavender-top (EDTA) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant and/or frozen specimen cannot be processed.
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
Upon receipt, suitability of specimen will be determined by the Cytogenetics laboratory.