Chromosome Analysis, Whole Blood (Constitutional) With Reflex for Y Deletion Analysis

Clinical Use

Use

This test evaluates infertility, hypogonadism, Klinefelter syndrome, and balanced or unbalanced chromosomal rearrangements that correlate with oligospermia/azoospermia.

Special Instructions

Not provided.

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.

Test Details

Methodology

Chromosomal / Cytogenetics (FISH)

Biomarkers

Unknown CNV

Copy Number Region

Y Chromosome Deletion Sites

Copy Number Alteration • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

77314-3 - Chromos cyto basic assoc obs Pnl Bld/T

Result Codes

31208-2 - Specimen source
62361-1 - Cells counted
62360-3 - Cells analyzed
55199-4 - Cells karyotyped.total Bld/T
62358-7 - ISCN band level Ql
29770-5 - Karyotyp Bld/T
62365-2 - Diagnostic imp Spec-Imp
48672-0 - Clinical cytogeneticist Spec
51969-4 - Gene analysis narr rpt Doc

Result Turnaround Time

25-28 days

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.