Test ID: F512
PDGFRB/TEL Translocation (5;12) for Chronic Myelomonocytic Leukemia, FISH
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Identifying patients with chronic myelomonocytic leukemia and other hematologic disorders who may be responsive to imatinib mesylate
Disease quantification before and after therapy
Method Name A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Chronic Myelomonocytic Leukemia (CMML)
CMML (Chronic Myelomonocytic Leukemia)
CMML with hypereosinophilia
FISH for CMML
Fluorescence In Situ Hybridization (FISH)
HES (Hypereosinophilia)
Hypereosinophilia
Hypereosinophilia (HES)
PDGFRB/TEL, FISH
Platelet Derived Growth Factor Receptor Beta
Platelet-Derived Growth Factor Receptor-Beta
r/o 5;12 translocation
t(5;12)
TEL (Translocated Ets Leukemia Protein)
Translocated Ets Leukemia Protein (TEL)
FISH (Fluorescence In Situ Hybridization)
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Provide 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, submit a Cytogenetics Hematologic Disorders Request Form (Supply T607) with the specimen.
Advise Express Mail or equivalent if not on courier service.
Submit only 1 of the following specimens:
Preferred:
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.
Acceptable:
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 Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | Clotted blood or bone marrow |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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 (Gleevec) 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 Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation Provides information to assist in interpretation of the test results
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff (0.6%) for PDGFRB/ETV6.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not approved by the Food and Drug Administration and it is best used as an adjunct to existing clinical and pathologic information.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Pardanani A, Reeder T, Porrata LF, et al: Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood 2003;101:3391-3397
2. Cain JA, Grisolano JL, Laird AD, et al: Complete remission of TEL-PDGFRB-induced myeloproliferative disease in mice by receptor tyrosine kinase inhibitor SU11657. Blood 2004;104:561-564
Method Description Describes how the test is performed and provides a method-specific reference
This test uses a Mayo-validated probe set to detect the t(5;12)(q33;p13) by fluorescence in situ hybridization (FISH). Blood or bone marrow is processed into fixed cell pellets according to standard culture room techniques. One slide is processed according to standard FISH procedures and probed with the PDGFRB/ETV6 probe set. The PDGFRB/ETV6 probe set uses a double (D)-FISH strategy to detect the 5;12 translocation. Abnormal nuclei have 1 red signal (1R), 1 green signal (1G), and 2 yellow (2Y; fusion) signals, while normal nuclei should have a 2R and 2G pattern, though other abnormal patterns may be observed (ie, 3R2G and 2R2G1Y). After hybridization and washing, 2 technologists each score 250 (500 total) nuclei and the results are expressed as a percent abnormal nuclei. (Brockman SR, Paternoster SF, Ketterling RP, et al: New highly sensitive fluorescence in situ hybridization method to detect PML/RARA fusion in acute promyelocytic leukemia. Cancer Genetics & Cytogenetics 2003;145:144-151)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
88271 x 2-DNA probe, each
88275 x 2-Interphase in situ hybridization
88291-Interpretation and Report
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 22894 | Specimen | 31208-2 |
| 22895 | Specimen ID | N/A |
| CG020 | Source | N/A |
| 22897 | Order Date | N/A |
| CG022 | Reason For Referral | 42349-1 |
| 22899 | Method | In Process |
| 22900 | Result | 21816-4 |
| 22901 | Interpretation | 69965-2 |
| 22902 | Amendment | In Process |
| 22903 | Reviewed By: | N/A |
| 22904 | Release Date | N/A |
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