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Test Code JAK2F JAK2 (9p24.1) Rearrangement for Hematologic Disorders, FISH

Secondary ID

64980

Useful For

Providing diagnostic information and helping to determine whether a targeted JAK2 inhibitor could be useful for therapy

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No No
_PADD Probe, +1 No No
_PB02 Probe, +2 No No
_PB03 Probe, +3 No No
_IL25 Interphases, <25 No No
_I099 Interphases, 25-99 No No
_I300 Interphases, ≥100 No 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

JAK2 (9p24.1) Rearrangement, FISH

Specimen Type

Varies


Necessary Information


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.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 4 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 

Reject Due To

No specimen should be rejected.

Clinical Information

The JAK2 gene is a protein tyrosine kinase involved in cytokine signaling. Chromosomal translocations involving JAK2 can lead to the formation of chimeric oncoproteins in hematologic malignancies. Rearrangements involving 9p24.1 are typically aggressive and rare abnormalities seen in various hematologic diseases. JAK2 inhibitors are one of the only therapy options besides a stem cell transplant for JAK2 rearrangements.

Reference Values

An interpretive report will be provided.

Interpretation

A positive result is detected when the percent of cells with an abnormality exceeds the normal cutoff for the probe set.

 

A positive result suggests rearrangement of the JAK2 locus. A negative result suggests no rearrangement of the JAK2 gene region at 9p24.1.

Clinical Reference

1. Chase A, Bryant C, Score J, et al: Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements. Haematol 2013;98(3):404-408

2. Van Roosbroeck K, Cox L, Tousseyn T, et al: JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma. Blood 2011;117(15):4056-4064

3. Roberts K, Li Y, Payne-Turner D, et al: Targetable Kinase-Activating Lesions in Ph-like Acute Lymphoblastic Leukemia. N Engl J Med 2014;371:1005-101

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CT.

Analytic Time

7 days

Performing 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

88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report

88271 x 2-DNA probe, each; each additional probe set (if appropriate)

88271 x 1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

 

88271 x 3-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)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
JAK2F JAK2 (9p24.1) Rearrangement, FISH In Process

 

Result ID Test Result Name Result LOINC Value
43674 Result Summary 50397-9
43675 Interpretation 69965-2
43676 Result Table No LOINC Needed
43677 Result 62356-1
CG972 Reason for Referral 42349-1
CG973 Specimen 31208-2
43680 Source 31208-2
43681 Method 49549-9
43682 Additional Information 48767-8
43683 Disclaimer 62364-5
43684 Released By No LOINC Needed