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24815 JAK2 Mutation Detection, Bone Marrow (JAK2M)

JAK2 Mutation Detection, Bone Marrow (JAK2M)
Test Code: JAK2MSO
Synonyms/Keywords
Janus kinase 2 gene, Tyrosine Kinase Mutation
Useful For
Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder in bone marrow specimens​
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
Bone Marrow​ ​EDTA Lavender Top Tube (LTT) ​ACD Yellow ​2 mL ​1 mL
Collection Processing Instructions
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
Specimen Stability Information
Specimen Type Temperature Time
Bone Marrow​ ​ ​Ambient (preferred) ​7 days
​Refrigerated ​7 days
Rejection Criteria
Gross Hemolysis
​ ​Moderately to severely clotted
Interference

​A positive result is not specific for a particular subtype of myeloproliferative neoplasm and clinicopathologic correlation is necessary in all cases. If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

A negative result does not exclude the presence of a myeloproliferative neoplasm or other neoplastic process.

In rare cases, a variant other than the V617F may be present in an area that interferes with primer or probe binding and cause a false-negative result.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories Monday through Friday​ ​2-5 days
Point Mutation Detection in DNA using Quantitative Polymerase Chain Reaction (PCR)
Reference Lab
Test Information
The Janus kinase 2 gene (JAK2) codes for a tyrosine kinase (JAK2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Receptor binding by extracellular ligand causes receptor multimerization and brings JAK2 proteins together to allow activation by transphosphorylation. Activated JAK2 then phosphorylates the cytoplasmic portion of the receptor creating a docking site for the latent transcription factor, STAT5, which is also phosphorylated by JAK2. Phosphorylated STAT5 then forms dimers that translocate into the nucleus and initiate transcription of genes ultimately responsible for cell growth and differentiation.
 
Recently, a point mutation in JAK2 (V617F) was identified in the hematopoietic cells of several chronic myeloproliferative disorders (CMPDs), most frequently polycythemia vera (65%-97%), essential thrombocythemia (25%-55%), and chronic idiopathic myelofibrosis (35%-57%).(1-3) The mutation has been reported at much lower frequency in some other CMPDs, chronic myelomonocytic leukemia and myelodysplastic syndromes.(4) It has not been reported in chronic myelogenous leukemia (CML), normal patients, or reactive cytoses.(1-4) This mutation causes constitutive activation of JAK2 and is thought to play a key role in the neoplastic phenotype. Since it is often difficult to distinguish reactive conditions from the non-CML CMPDs, identification of the JAK2 mutation has diagnostic value. Potential prognostic significance of JAK2 mutation detection in chronic myeloid disorders has yet to be clearly established.
Reference Range Information
Interpretive report
Interpretation
The results will be reported as 1 of the 3 states:
-Negative for JAK2 V617F mutation
-Below the laboratory cutoff for JAK2 V617F mutation positivity
-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 definitive diagnosis. Negative mutation status does not exclude the presence of a chronic myeloproliferative disorder or other neoplasm. Results below the laboratory cutoff for positivity are of unclear clinical significance at this time.​
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81270
Synonyms/Keywords
Janus kinase 2 gene, Tyrosine Kinase Mutation
Ordering Applications
Ordering Application Description
​Centricity ​JAK2 V617F Mutation Bone Marrow
​Cerner ​None
​COM ​JAK2 Mutation Detection BM
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
Bone Marrow​ ​EDTA Lavender Top Tube (LTT) ​ACD Yellow ​2 mL ​1 mL
Collection Processing
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
Specimen Stability Information
Specimen Type Temperature Time
Bone Marrow​ ​ ​Ambient (preferred) ​7 days
​Refrigerated ​7 days
Rejection Criteria
Gross Hemolysis
​ ​Moderately to severely clotted
Interference

​A positive result is not specific for a particular subtype of myeloproliferative neoplasm and clinicopathologic correlation is necessary in all cases. If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

A negative result does not exclude the presence of a myeloproliferative neoplasm or other neoplastic process.

In rare cases, a variant other than the V617F may be present in an area that interferes with primer or probe binding and cause a false-negative result.

Useful For
Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder in bone marrow specimens​
Reference Range Information
Interpretive report
Interpretation
The results will be reported as 1 of the 3 states:
-Negative for JAK2 V617F mutation
-Below the laboratory cutoff for JAK2 V617F mutation positivity
-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 definitive diagnosis. Negative mutation status does not exclude the presence of a chronic myeloproliferative disorder or other neoplasm. Results below the laboratory cutoff for positivity are of unclear clinical significance at this time.​
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories Monday through Friday​ ​2-5 days
Point Mutation Detection in DNA using Quantitative Polymerase Chain Reaction (PCR)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81270
For most current information refer to the Marshfield Laboratory online reference manual.