JAK2 Mutation (V617F) Analysis
Order Name
JAK2 MUTAT
Test Number: 9100185
Revision Date 10/01/2022
Test Number: 9100185
Revision Date 10/01/2022
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
JAK2 Mutation (V617F) Analysis
|
Qualitative PCR |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 4mL (1mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Instructions | Do Not use EDTA that has been sampled by an instrument or shared with any other testing. 4mL(1mL) Peripheral Whole Blood in EDTA Lavender top tube. Please keep specimens at room temperature or refrigerated. Do Not Centrifuge. Stability is 8 days room temperature and refrigerated. |
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| GENERAL INFORMATION | |
|---|---|
| Testing Schedule | Dayshift- Friday |
| Expected TAT | 5-6 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. |
| Notes | |
| CPT Code(s) | 81270 |
| Internal Comments | OLD 83891, 83892, 83907, 83896x2, 83898x2, 83914, 83912 this has been removed by at request of dr Starkey 4-29-14 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. 7/11/17 updated share to shared 11/4/21 change volume from 6mL(4mL) to 4(mL)(1mL) |
| Lab Section | Molecular Diagnostic |