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JAK2 Mutation (V617F)- Plasma based Analysis

Order Name JAK 2 PLAS
Test Number: 5572275
Revision Date 09/08/2009
Test Name Methodology LOINC Code
JAK 2 Mutation
Leumeta(TM)  
JAK 2 Mutation Exon 12
Leumeta(TM)  
JAK 2 Mutations Exon 13
Leumeta(TM)  
JAK 2 Interpretation
 
SPECIMEN REQUIREMENTS
Specimen Specimen Volume (min) Specimen Type Specimen Container Transport Environment
Preferred 5 mL (2) Plasma EDTA (Lavender Top) Frozen
Instructions Collect two 5mL EDTA lavender top tubes, centrifuge and aliquot plasma into plastic pour off tube and freeze with in 2hrs of collection. Frozen plasma is stable for 2 years.
Whole Blood Specimens are acceptable at Room temperature and refrigerated temperatures, but are only stable for 72hrs. RML can process the whole blood samples into frozen plasma aliquots as needed provided the sample meets whole blood stability requirements.
Whole blood stability: Room temperature= 72hrs. Refrigerated= 72hrs.
NOTE: Information regarding draw time and date is required on the sample to ensure the stability of the sample can be maintained.
Do Not Freeze Whole Blood Specimens.
GENERAL INFORMATION
Testing Schedule Monday 
Expected TAT 8-16 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 myeolproliferative disorder clone. 
Notes Due to a better resolution and detection of (V617F) mutation on plasma, the Plasma based analysis is the preferred testing method.
CPT Code(s) 83891; 83902; 83898 (x3); 83904; 83912
Service Provided By Labcorp Oklahoma, Inc.
Lab Section Reference Lab