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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

JAK2 V617F Mutation Detection, Bone Marrow

BM JAK2MSO

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
Mayo Clinic Laboratories
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. Signaling via JAK2 activation causes phosphorylation of downstream signal transducers and activators of transcription (STAT) proteins (eg, STAT5) ultimately leading to cell growth and differentiation. BCR-ABL1-negative myeloproliferative neoplasms (MPN) frequently harbor an acquired single nucleotide variant in JAK2 characterized as c.G1849T; p. Val617Phe (V617F). This variant is identified overall in approximately two-thirds of all MPN,(1-3) but the prevalence varies by MPN subtype. The JAK2 V617F variant is present in 95% to 98% of polycythemia vera patients, 50% to 60% of primary myelofibrosis (PMF) patients, and 50% to 60% of essential thrombocythemia (ET) patients. It has also been described infrequently in other myeloid neoplasms, including chronic myelomonocytic leukemia and myelodysplastic syndrome.(4) This variant is not seen in chronic myelogenous leukemia (CML) or in reactive conditions with elevated blood counts. Detection of the JAK2 V617F variant is useful to help establish the diagnosis of MPN. However, a negative JAK2 V617F result does not indicate absence of a MPN. Other important molecular markers in BCR-ABL1-negative MPN include CALR exon 9 variant (20%-30% of PMF and ET) and MPL exon 10 variant (5%-10% of PMF and 3%-5% of ET). Variants in JAK2, CALR, and MPL are essentially mutually exclusive.

Reference Range Information
Interpretive report
Interpretation
The results will be reported as 1 of the 2 states:
-Negative for JAK2 V617F mutation
-Positive for JAK2 V617F mutation
 

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.

Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​81270 ​ ​ ​ ​
Synonyms/Keywords

Janus kinase 2 gene, Tyrosine Kinase Mutation

JAK2 V617F Mutation Detection, Bone Marrow

BM JAK2MSO

Ordering Applications
Ordering Application Description
COM ​JAK2 V617F  Mutation Bone Marrow (JAK2M)
​Cerner ​JAK2 Mutation Detection, Bone Marrow (JAK2M)
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 2 states:
-Negative for JAK2 V617F mutation
-Positive for JAK2 V617F mutation
 

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.

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
Mayo Clinic Laboratories
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.