Test Catalog

Test Id : EOSMF

Chronic Eosinophilia, Specified 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) using specified probes set

 

Supporting a diagnosis of malignancy when 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 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes or 3 individual FISH probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

If the patient is being treated for known abnormalities, indicate the abnormality and which probes should be used.

 

When specified, any of the following probes will be performed:

4q12 deletion or rearrangement, FIP1L1, CHIC2, PDGFRA

4q12 rearrangement, PDGFRA

5q32 rearrangement, PDGFRB

t(5;12), PDGFRB/ETV6

8p11.2 rearrangement, FGFR1

9p24.1 rearrangement, JAK2

9q34 rearrangement, ABL1

t(9;22), BCR/ABL1

 

For more information see Eosinophilia: Bone Marrow Diagnostic Algorithm.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Chronic Eosinophilia, Spec FISH

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(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(5;12)(q32;p13) - PDGFRB/ETV6

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 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes or 3 individual FISH probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

If the patient is being treated for known abnormalities, indicate the abnormality and which probes should be used.

 

When specified, any of the following probes will be performed:

4q12 deletion or rearrangement, FIP1L1, CHIC2, PDGFRA

4q12 rearrangement, PDGFRA

5q32 rearrangement, PDGFRB

t(5;12), PDGFRB/ETV6

8p11.2 rearrangement, FGFR1

9p24.1 rearrangement, JAK2

9q34 rearrangement, ABL1

t(9;22), BCR/ABL1

 

For more information see Eosinophilia: Bone Marrow Diagnostic Algorithm.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test is intended for instances when limited chronic eosinophilia fluorescence in situ hybridization (FISH) probes are needed. The FISH probes to be analyzed must be specified on the request, otherwise test processing may be delayed in order to determine the intended analysis. If specific probes are not included with this test request, this test may be canceled and automatically reordered by the laboratory as EOSDF / Chronic Eosinophilia, Diagnostic FISH, Varies.

 

If the entire chronic eosinophilia FISH panel is preferred, order EOSDF / Chronic Eosinophilia, Diagnostic, FISH, Varies.

 

Paraffin embedded tissue testing is not available for these probe sets.

 

This test is ordered for targeted FISH probes to be evaluated based on specific abnormalities or on abnormalities identified in the diagnostic sample.

 

At diagnosis, a EOSDF / Chronic Eosinophilia, Diagnostic, FISH, Varies panel and a conventional chromosome study should be performed.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

1. A list of probes requested for analysis is required. Probes available for this test are listed in the Testing Algorithm section.

2. A reason for testing should be 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.

3. A pathology and/or flow cytometry report may be requested by the laboratory to optimize testing and aid in interpretation of results.

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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

Blood: 2 mL

Bone Marrow: 1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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) using specified probes set

 

Supporting a diagnosis of malignancy when 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 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes or 3 individual FISH probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

If the patient is being treated for known abnormalities, indicate the abnormality and which probes should be used.

 

When specified, any of the following probes will be performed:

4q12 deletion or rearrangement, FIP1L1, CHIC2, PDGFRA

4q12 rearrangement, PDGFRA

5q32 rearrangement, PDGFRB

t(5;12), PDGFRB/ETV6

8p11.2 rearrangement, FGFR1

9p24.1 rearrangement, JAK2

9q34 rearrangement, ABL1

t(9;22), BCR/ABL1

 

For more information see Eosinophilia: Bone Marrow Diagnostic Algorithm.

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 many 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

Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of 25 normal specimens. Each probe set was evaluated to confirm the probe set detected the abnormality it was designed to detect.

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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

No

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.

7 to 10 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

4 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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 Regional Manager. For assistance, contact Customer Service.

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.

88271 x2, 88275 x1, 88291 x1-FISH Probe, Analysis, Interpretation; 1 probe sets

88271 x2, 88275 x1-FISH Probe, Analysis; each additional probe set (if appropriate)

88271 x1-FISH Probe; coverage for sets containing 3 probes (if appropriate)

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports