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Chromosome Analysis - Blood

CPT Contact CPT coding department at 800-222-7566, ext 6-8400.
Synonyms
  • Chromosome analysis
  • Constitutional disorders

Test Details

Cancer Type

Hematologic malignancies, Leukemia, Lymphoma

Technology Used

Cytogenetics

Turnaround Time

5 - 13 days

View Requisition Forms

Use

This test is used to evaluate congenital malformations, intellectual disability, growth problems, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome or other suspected chromosomal disorders.

Special Instructions

Pertinent medical findings must accompany request for chromosome analysis. Include the patient's name, age, and suspected diagnosis. If cord blood or fetal blood is received, test number will be changed to 511025 to exclude maternal origin of the sample obtained.

Test Includes

20 cell microscopic analysis; G-banded karyotype analysis

Limitations

This result does not exclude the possibility of subtle rearrangements below the resolution of cytogenetics or congenital anomalies due to other etiologies. 

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Lymphocyte culture with mitogen stimulation, colchicine arrest of cells in mitosis with predominantly early metaphases, methanol/acetic acid fixation, spread preparation, trypsin-Giemsa banding, chromosome analysis of 20 metaphases with preparation and analysis of multiple karyotypes. Other banded preparations are made as needed. Fluorescence in situ hybridization (FISH) ordered as needed (see test 510770).

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood

Volume

5 mL (adults), 2 mL (neonates)

Minimum Volume

2 mL

Container

Green-top (sodium heparin) tube

Storage Instructions

Specimen should be sent 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.

Collection

Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) 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.  

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