JAK2 Mutation (V617F) Analysis
Order Name
JAK 2 CELL
Test Number: 5572375
Revision Date 11/05/2012
Test Number: 5572375
Revision Date 11/05/2012
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
JAK 2 Mutation
|
Leumeta(TM) | 43399-5 |
|
JAK 2 Mutation Exon 12
|
Leumeta(TM) | 55300-8 |
|
JAK 2 Mutation Exon 13
|
Leumeta(TM) | 55301-6 |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 6mL (4mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Alternate 1 | 6mL (4mL) | Bone Marrow | EDTA (Lavender Top) | Room Temperature |
| Alternate 2 | 6mL (4mL) | Bone Marrow | Sodium Heparin (Green Top / No-Gel) | Room Temperature |
| Instructions | Sept. 8th 2009 - The preferred specimen for JAK 2 Mutation is: 6mL(4mL) Peripheral Whole Blood in EDTA Lavender top tube. Please keep specimens at room temperature and do not centrifuge. - or - 3mL(2mL) Bone marrow in EDTA Lavender top tube. If part of a Bone marrow work up the JAK 2 Mutation can be performed on Sodium Heparin green top tube provided there is adequate volume of aspirate to share with the cytogenetics. Please keep specimens at room temperature and do not centrifuge. NOTE: Information regarding draw time and date is required on the sample to ensure the stability of the sample can be maintained. Specimen integrity will be determined at the performing laboratory. |
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| GENERAL INFORMATION | |
|---|---|
| Testing Schedule | Sun-Sat |
| Expected TAT | 3-7 Days |
| Clinical Use | Myeloproliferative disorders (MPDs) are clonal hematopoietic stem cell malignancies characterized by excessive production of blood cells by hematopoietic precursors. In addition to thrombotic and hemorrhagic complications, leukemic transformation can occur. The main members of MPD are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Idiopathic Myelofibrosis (MF). The molecular pathogenesis of most MPDs is unknown. This V617F mutation leads to constituitive tyrosine phosphorylation activity that promotes cytokine activity and induces erythrocytosis. The V617F mutation in JAK2 is a dominant gain-of function mutation that contributes to the expansion of the myeloproliferative disorder clone. JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome. |
| Notes | September 8th 2009, Specimen collection update Due to the complex nature of testing, the performing laboratory would prefer to receive JAK 2 Mutation specimens as Peripheral Whole Blood or Bone Marrow. They will evaluate specimens for stability and process them for testing. |
| CPT Code(s) | 83891; 83902; 83898 (x3); 83904; 83912 |
| Internal Comments | old clinical use: JAK2 mutations are associated with myeloproliferative disorders. It has been identified in upwards of 90% of cases of polycythemia vera (PV) and 40% of cases of either essential thrombocythemia (ET) or chronic idiopathic myelofibrosis (CIMF). It is infrequent in cases of CMML, CML, & MDS. In some studies it is associated with more aggressive disease. old Notes: Provided that there is adequate volume of bone marrow aspirate, it can be used to create a plasma rich supernatant in which the plasma based analysis may be employed due to a better resolution and detection of (V617F) mutation in plasma. |
| Lab Section | Reference Lab |