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Test Code JAKXB JAK2 Exon 12 and Other Non-V617F Mutation Detection, Blood

Reporting Name

JAK2 Exon 12 Mutation Detection, B

Useful For

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being considered, using blood specimens

Testing Algorithm

This is a second-order test that should be used when the test for the JAK2B / JAK2 V617F Mutation Detection, Blood test is negative. The sensitivity of this assay is much less than that of the JAK2B test. This is because the sequencing technique is required to evaluate for many potential mutations. The sensitive JAK2B test should always be performed first, as the JAK2 mutation burden may be very low in some specimens. If the JAK2B test is negative, then this assay should be performed for detection of non-V617F JAK2 mutations.

 

For more information see:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

-Erythrocytosis Evaluation Testing Algorithm

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Ordering Guidance


In all cases being evaluated for JAK2 mutation status, the initial test that should be ordered is JAK2B / JAK2 V617F Mutation Detection, Blood, a sensitive assay for detection of the mutation. However, if no JAK2 V617F mutation is found, further evaluation of JAK2 may be clinically indicated.



Additional Testing Requirements


 



Shipping Instructions


Specimen must arrive within 5 days (120 hours) of collection. Collect and package specimen as close to shipping time as possible.



Necessary Information


Date of collection is required.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.


Specimen Minimum Volume

8 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 5 days PURPLE OR PINK TOP/EDTA
  Ambient  5 days PURPLE OR PINK TOP/EDTA

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Test Classification

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

0027U-JAK2 (Janus kinase 2) (eg, myeloproliferative disorder), exon 12 sequence and exon 13 sequence, if performed

LOINC Code Information

Test ID Test Order Name Order LOINC Value
JAKXB JAK2 Exon 12 Mutation Detection, B 55300-8

 

Result ID Test Result Name Result LOINC Value
39467 JAK2 Sequencing Result 55300-8
20194 Final Diagnosis: 34574-4

Interpretation

The results will be reported as 1 of 2 states:

1. Negative for JAK2 mutation

2. Positive for JAK2 mutation

 

If the result is positive, a description of the mutation at the nucleotide level and the altered protein sequence is reported.

 

Positive mutation status is highly suggestive of a myeloproliferative neoplasm but must be correlated with clinical and other laboratory features for a definitive diagnosis. Negative mutation status does not exclude the presence of a myeloproliferative or other neoplasm.

Clinical Reference

1. Ma W, Kantarjian H, Zhang X, et al: Mutation profile of JAK2 transcripts in patients with chronic myeloid neoplasias. J Mol Diagn. 2009;11:49-53

2. Kilpivaara O, Levine RL: JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813-1817

3. Kravolics R: Genetic complexity of myeloproliferative neoplasms. Leukemia. 2008;22:1841-1848

4. Tefferi A: The classic myeloproliferative neoplasms: Chronic myelogenous leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019, Accessed March 16, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225078035&bookid=2709

Report Available

5 to 8 days

Method Name

Sanger Sequencing

Forms

1. Hematopathology Patient Information (T676)

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.