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Test Code JAK2V JAK2 V617F Mutation Detection, Varies

Reporting Name

JAK2 V617F Mutation Detection, V

Useful For

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using extracted DNA specimens

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Varies


Specimen Required


Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and indicate volume and concentration of the DNA.

Specimen Stability Information: Refrigerated/Ambient


Specimen Minimum Volume

50 microliter at a concentration of 20 ng/microliter

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

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

81270-JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant

LOINC Code Information

Test ID Test Order Name Order LOINC Value
JAK2V JAK2 V617F Mutation Detection, V 43399-5

 

Result ID Test Result Name Result LOINC Value
39724 JAK2 Result 53761-3
31160 JAK2 V617F Mutation Detection, V 43399-5

Interpretation

The results will be reported as 1 of the 2 states:

-Negative for JAK2 V617F mutation

-Positive for JAK2 V617F mutation

 

Positive mutation status is highly suggestive of a myeloid 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 neoplasm or other neoplasm.

 

Results below the laboratory cutoff for positivity are of unclear clinical significance at this time.

Clinical Reference

1. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-1061

2. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature. 2005;434(7037):1144-1148

3. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790

4. Steensma DP, Dewald GW, Lasho TL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and the myelodysplastic syndrome. Blood. 2005;106:1207-1209

5. Stuckey R, Gomez-Casares MT. Recent advances in the use of molecular analyses to inform the diagnosis and prognosis of patients with polycythaemia vera. Int J Mol Sci. 2021;22(9):5042. doi:10.3390/ijms22095042

Report Available

2 to 5 days

Method Name

Quantitative Polymerase Chain Reaction (PCR)

Forms

1. Hematopathology Patient Information (T676)

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