Sign in →

Test Code JAK2M JAK2 V617F Mutation Detection, Bone Marrow

Reporting Name

JAK2 V617F Mutation Detection, BM

Useful For

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using bone marrow specimens

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Bone Marrow


Shipping Instructions


Specimen must arrive within 7 days of collection.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Bone Marrow Ambient (preferred) 7 days PURPLE OR PINK TOP/EDTA
  Refrigerated  7 days PURPLE OR PINK TOP/EDTA

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

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
JAK2M JAK2 V617F Mutation Detection, BM 72333-8

 

Result ID Test Result Name Result LOINC Value
39723 JAK2 Result 53761-3
31157 JAK2 V617F Mutation Detection, BM 72333-8

Interpretation

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

-Negative for JAK2 V617F variant

-Positive for JAK2 V617F variant

 

Positive variant status is highly suggestive of a myeloid neoplasm but must be correlated with clinical and other laboratory features for definitive diagnosis.

 

Negative variant 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 Mar;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 Apr 28;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 Apr 28;352(17):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 syndromes. Blood. 2005 Aug 15;106(4):1207-1209

5. Gong JZ, Cook JR, Greiner TC, et al: Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology. J Mol Diagn. 2013 Nov;15(6):733-744

Report Available

2 to 5 days

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.

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.