Alternative Name
Cytogenetics, karyotyping
Methodology
Cytogenetics
Test Description

A wide variety of abnormalities can be identified, providing both diagnostic and prognostic information. Acute leukemias, lymphomas and chronic myeloid and lymphoid disorders are examined cytogenetically in order to establish the exact nature of the acquired genetic change. Rearrangements, also known as translocations, inversions, and deletions, can usually be detected under a light microscope. In most leukemias and lymphomas, changes in chromosome number (ploidy) or chromosome structure (rearrangements) are often observed.
 

Clinical Significance

In some forms of cancer, especially hematological neoplasms, cytogenetic analysis can determine whether chromosomal changes, either structural or numerical, are present in the malignant cells, thereby facilitating diagnosis, prognosis and treatment options.

Specimen Requirements
  • BM Aspirate: 1-2 mL sodium heparin tube.
  • Peripheral Blood: 2-5 mL sodium heparin tube.
  • Fresh/Unfixed Tissue - Lymph Node or Solid Tumor Tissue Biopsy: One thin cross-section of fresh node or one representative section of solid tumor with minimum 0.5 cm3 tissue. Collect under sterile conditions as if for microbiologic culture. Place tissue in RPMI and note type of tissue on test requisition. Lymph nodes may be sent to our Aliso Viejo, CA or  Nashville, TN facility. Send solid tumor samples to the Nashville, TN facility. Please see our contact page for shipping address. Tissues placed in formalin are unacceptable for cytogenetics.
  • Note: When submitting samples for cancer indications, please provide bone marrow transplantation status and (suspected) diagnosis on the requisition (and/or attach flow cytometry and morphology reports).
  • Fresh/Unfixed Tissue- Products of Conception (POC): Dissected chorionic villi or known fetal tissue(s) are preferred, but uterine contents or tissue of mixed fetal/maternal origin is acceptable and will be processed. Please include villi if sending tissue from a fetal demise. Place tissue in RPMI, note type(s) of tissue on test requisition, and send to our Nashville, TN facility. Please see our contact page for shipping address. Tissues placed in formalin are unacceptable for cytogenetics.
    • POC cytogenetics only: At least 50-100 mg villi or 1-1.5 cm3 fetal tissue(s).
    • POC cytogenetics with reflex to NeoARRAY™ SNP/Cytogenetic Profile: Same. At least 50-100 mg villi or 1-1.5 cm3 fetal tissue(s).
Storage and Transportation

Do not freeze. Use cold pack for transport, make sure cold pack is not in direct contact with specimen.

CPT Code(s)*
88237, 88262, 88291. Some cases require additional study and may use 88264, 88280, 88285.
Turnaround Time

Bone marrow aspirate/blood: 5 days (standard; 7 days for known or suspected plasma cell neoplasm) | Lymph node/node biopsy: 5 days | Solid tumor: 21 days | POC without array: 14-21 days | POC with reflex to array: 28-35 days

Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.