Test Id : EOSDF
Chronic Eosinophilia, Diagnostic FISH, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1).
Supporting the diagnosis of malignancy if a clone is present
An adjunct to conventional chromosome studies.
Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| EOSDB | Probe, Each Additional (EOSDF) | No, (Bill Only) | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes a charge for the probe application, analysis, and professional interpretation of results for 5 probe sets (11 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
The panel includes testing for the following kinase activating chromosome abnormalities, using the following FISH probes:
4q12 deletion or rearrangement, FIP1L1, CHIC2 ,PDGFRA
5q32 rearrangement, PDGFRB
8p11.2 rearrangement, FGFR1
9p24.1 rearrangement, JAK2
9q34 rearrangement, ABL1
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
In the absence of a CHIC2 deletion, if an extra or atypical CHIC2 or PDGFRA signal is identified, reflex testing will be performed using the PDGFRA break-apart probe set to evaluate for the presence or absence of a PDGFRA rearrangement.
If a PDGFRB rearrangement is identified, reflex testing using the PDGFRB/ETV6 probe set will be performed to evaluate for the presence or absence of t(5;12)(q32;p13) -PDGFRB::ETV6 fusion.
If an ABL1 rearrangement is identified, reflex testing using the ABL1/BCR probe set will be performed to evaluate for the presence or absence of t(9;22)(q34;q11.2) - ABL1::BCR fusion.
Method Name
A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Eosinophilia
Hypereosinophilia (HES)
Mast cell disease
Mastocytosis
Myeloproliferative disorder (MPD)
Systemic mast cell disease (SMCD)
PDGFRB/ETV6
Platelet Derived Growth Factor Receptor Beta
Chronic eosinophilic leukemia (CEL)
Hypereosinophilic Syndrome (HES)
Myeloproliferative Neoplasms (MPN)
CHIC2 (4q12) deletion
FIP1L1/CHIC2/PDGFRA
t(4q12;var) - PDGFRA rearrangement
t(5;12)(q33;p13) - PDGFRB/ETV6
t(8p11.2;var) - FGFR1 rearrangement
8p11 (eight p11) myeloproliferative syndromes (EMS)
t(9p24.1;var) - JAK2 rearrangement
t(9q34;var) - ABL1 rearrangement
t(9;22)(q34;q11.2) - BCR/ABL1
Myeloid/Lymphoid neoplasms with eosinophilia and gene rearrangement
B-lymphoblastic leukemia/lymphoma (B-ALL/B-LBL)
T-lymphoblastic leukemia/lymphoma (T-ALL/T-LBL)
Stem cell myeloproliferative disorders
Acute myeloid leukemia (AML)
Mixed phenotype acute leukemia (MPAL)
t(5q32;var) - PDGFRB rearrangement
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes a charge for the probe application, analysis, and professional interpretation of results for 5 probe sets (11 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
The panel includes testing for the following kinase activating chromosome abnormalities, using the following FISH probes:
4q12 deletion or rearrangement, FIP1L1, CHIC2 ,PDGFRA
5q32 rearrangement, PDGFRB
8p11.2 rearrangement, FGFR1
9p24.1 rearrangement, JAK2
9q34 rearrangement, ABL1
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
In the absence of a CHIC2 deletion, if an extra or atypical CHIC2 or PDGFRA signal is identified, reflex testing will be performed using the PDGFRA break-apart probe set to evaluate for the presence or absence of a PDGFRA rearrangement.
If a PDGFRB rearrangement is identified, reflex testing using the PDGFRB/ETV6 probe set will be performed to evaluate for the presence or absence of t(5;12)(q32;p13) -PDGFRB::ETV6 fusion.
If an ABL1 rearrangement is identified, reflex testing using the ABL1/BCR probe set will be performed to evaluate for the presence or absence of t(9;22)(q34;q11.2) - ABL1::BCR fusion.
Specimen Type
Describes the specimen type validated for testing
Varies
Ordering Guidance
This test is intended to be ordered when the entire chronic eosinophilia fluorescence in situ hybridization (FISH) panel is needed.
If limited chronic eosinophilia FISH probes are preferred, order EOSMF / Chronic Eosinophilia, Specified FISH, Varies.
At follow-up, targeted chronic eosinophilia probes can be evaluated based on the abnormalities identified in the diagnostic study. Order EOSMF/ Chronic Eosinophilia, Specified FISH, Varies. and request a specific probe to evaluate the known genomic abnormality.
Paraffin embedded tissue testing is not available for these probe sets.
Necessary Information
A reason for testing and a flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided however, appropriate testing and interpretation may be compromised or delayed. If not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| GC080 | Reason for Referral | |
| GC081 | Specimen |
Whole blood ACD Bone marrow ACD Whole blood Na Hep Bone marrow Na Hep Whole blood EDTA Bone marrow EDTA |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Submit only 1 of the following specimens:
Preferred
Specimen Type: Bone marrow
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (heparin) or lavender top (EDTA)
Specimen Volume: 2-3 mL
Collection Instructions:
1. It is preferable to send the first aspirate from the bone marrow collection.
2. Invert several times to mix bone marrow.
3. Send bone marrow specimen in original tube. Do not aliquot.
Acceptable
Specimen Type: Blood
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (heparin) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Forms
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Blood: 2 mL
Bone Marrow: 1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1).
Supporting the diagnosis of malignancy if a clone is present
An adjunct to conventional chromosome studies.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes a charge for the probe application, analysis, and professional interpretation of results for 5 probe sets (11 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
The panel includes testing for the following kinase activating chromosome abnormalities, using the following FISH probes:
4q12 deletion or rearrangement, FIP1L1, CHIC2 ,PDGFRA
5q32 rearrangement, PDGFRB
8p11.2 rearrangement, FGFR1
9p24.1 rearrangement, JAK2
9q34 rearrangement, ABL1
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
In the absence of a CHIC2 deletion, if an extra or atypical CHIC2 or PDGFRA signal is identified, reflex testing will be performed using the PDGFRA break-apart probe set to evaluate for the presence or absence of a PDGFRA rearrangement.
If a PDGFRB rearrangement is identified, reflex testing using the PDGFRB/ETV6 probe set will be performed to evaluate for the presence or absence of t(5;12)(q32;p13) -PDGFRB::ETV6 fusion.
If an ABL1 rearrangement is identified, reflex testing using the ABL1/BCR probe set will be performed to evaluate for the presence or absence of t(9;22)(q34;q11.2) - ABL1::BCR fusion.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The myeloid/lymphoid neoplasms with eosinophilia and rearrangements of PDGFRA, PDGFRB, FGFR1 and JAK2 represent a significantly diverse group of hematologic malignancies. Despite the disparate clinical presentations, which include chronic myeloid neoplasms (chronic myelomonocytic leukemia, chronic myeloproliferative neoplasms, chronic eosinophilic leukemia) versus more acute myeloid and lymphoid neoplasms (acute myeloid leukemia, B- and T-lymphoblastic leukemia/lymphoma and mixed phenotypic acute leukemias), this diagnostic subgroup shares rearrangements involving 4 specific gene regions: PDGFRA, PDGFRB, FGFR1, and JAK2.
While conventional chromosome studies may detect many of the rearrangements associated with these gene rearrangements, several are cytogenetically "cryptic," including the most common abnormality involving PDGFRA activation. This one megabase submicroscopic, intrachromosomal deletion results in loss of the CHIC2 gene region with subsequent fusion of neighboring genes FIP1L1 and PDGFRA. In addition to this more common, cryptic deletion, the PDGFRA gene has many translocation partners described (at least 15) that similarly result in PDGFRA upregulation.
The PDGFRB, FGFR1, and JAK2 gene regions similarly have numerous translocation/inversion partners described, at least 50 for PDGFRB, 10 for FGFR1, and 40 for JAK2. Despite the significant heterogeneity in gene partners, the identification of PDGFRA, PDGFRB, FGFR1, and JAK2 rearrangements is critical for disease categorization and potential therapeutic intervention. Both PDGFRA and PDGFRB have the potential for response to targeted tyrosine kinase inhibitor therapies such as imatinib mesylate. Similarly, JAK2 rearrangements have the potential for response to targeted inhibitor therapy. Rearrangements of FGFR1 are typically more aggressive and less responsive to targeted inhibitors.
While not formally included in the World Health Organization categorization of myeloid/lymphoid neoplasms with PDGFRA, PDGFRB, FGFR1, or JAK2 rearrangements, rearrangements of the ABL1 gene other than with the BCR locus, can result in similar clinical phenotypes. Thus, the ABL1 gene region has been included in this fluorescence in situ hybridization panel evaluation to appropriately interrogate this gene region, particularly since these patients may not be identified by conventional karyotype analysis and may significantly benefit from targeted tyrosine kinase therapies.
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 reference range for any given probe.
The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.
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 US Food and Drug Administration, and it is best used as an adjunct to clinical and pathologic information.
Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies because the latter detects chromosome abnormalities associated with other hematological disorders that would be missed by this FISH panel test.
Bone marrow is the preferred sample type for this FISH test. If bone marrow is not available, a blood specimen may be used if there are neoplastic cells in the blood specimen (as verified by a hematopathologist).
Supportive Data
Clinical Reference
Recommendations for in-depth reading of a clinical nature
Myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement. In: Swerdlow SH, Campo E, Harris NL, et al, eds. WHO Classification of Tumours. Vol 2. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017:71-80
Method Description
Describes how the test is performed and provides a method-specific reference
This test is performed using commercially available and laboratory-developed probes. Rearrangements or deletions involving CHIC2, PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1 are detected using a tri or dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used in reflex testing when rearrangements of the PDGFRB and ABL1 gene are detected. For enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
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
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
88271 x11, 88275 x5, 88291 x1-FISH Probe, Analysis, Interpretation; 5 probe sets
88271 x2, 88275 x1–FISH Probe, Analysis; each additional probe set (if appropriate)
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| EOSDF | Chronic Eosinophilia, Diag FISH | In Process |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 609588 | Result Summary | 50397-9 |
| 609589 | Interpretation | 69965-2 |
| 609590 | Result Table | 93356-4 |
| 609591 | Result | 62356-1 |
| GC080 | Reason for Referral | 42349-1 |
| GC081 | Specimen | 31208-2 |
| 609592 | Source | 31208-2 |
| 609593 | Method | 85069-3 |
| 609594 | Additional Information | 48767-8 |
| 609595 | Disclaimer | 62364-5 |
| 609596 | Released By | 18771-6 |