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HelpTest ID 512F PDGFRB/TEL Translocation (5;12) for Chronic Myelomonocytic Leukemia (CMML), FISH
Useful For
Identifying patients with chronic myelomonocytic leukemia and other hematologic disorders who may be responsive to imatinib mesylate
Identifying and tracking chromosome abnormalities and response to therapy
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _PBCT | Probe, +2 | No, (Bill Only) | No |
| _PADD | Probe, +1 | No, (Bill Only) | No |
| _PB02 | Probe, +2 | No, (Bill Only) | No |
| _PB03 | Probe, +3 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, ≥100 | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
PDGFRB/TEL, FISHSpecimen Type
VariesProvide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.
Forms: If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)
Advise Express Mail or equivalent if not on courier service.
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: Green top (sodium heparin)
Specimen Volume: 7-10 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Specimen Type: Bone marrow
Container/Tube: Green top (sodium heparin)
Specimen Volume: 1-2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Specimen Minimum Volume
Blood: 2 mL/Bone Marrow: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information
Platelet-derived growth factor receptor-beta (PDGFRB) produces a tyrosine kinase involved in cell proliferation. Translocation-ets-leukemia protein (encoded by the gene ETV6) is a gene transcription protein that is frequently rearranged in leukemias. A 5;12 translocation, t(5;12)(q33;p13), results in a fusion product (PDGFRB/ETV6) that is seen in approximately 1% to 2% of patients diagnosed with chronic myelomonocytic leukemia. Patients with this translocation often have associated hypereosinophilia.
Imatinib mesylate is an inhibitor of tyrosine kinases, including PDGFRB. Patients with the 5;12 translocation are reportedly responsive to imatinib mesylate; upon treatment, they usually go into complete remission.
Reference Values
An interpretive report will be provided.
Cautions
This test is not approved by the U.S. Food and Drug Administration and it is best used as an adjunct to existing clinical and pathologic information.
Day(s) Performed
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m. to 5 p.m. CST.
Report Available
5 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
88271x2, 88291 – DNA probe, each (first probe set), Interpretation and report
88271x2 – DNA probe, each; each additional probe set (if appropriate)
88271x1 – DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2 – DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3 – DNA probe, each; coverage for sets containing 5 probes (if appropriate)
88274 w/modifier 52 – Interphase in situ hybridization, <25 cells, each probe set (if appropriate)
88274 – Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)
88275 – Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)