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Test Code JAK12-13 JAK2 Exons 12 and 13 Mutations, Qualitative, Leumeta®

Performing Laboratory

Quest Nichols-Valencia

Methodology

Polymerase Chain Reaction (PCR)- Sequencing

Reference Values

JAK2 exon 12 Mutations: Not Detected

JAK2 exon 13 Mutations: Not Detected

Test Classification and CPT Coding

81403

Day(s) and Time(s) Performed

Monday - Friday

Analytical time 3 days

Specimen Required

Container/Tube: Lavender EDTA tube
Specimen: 6 ml Whole Blood from EDTA Lavender top tube(4 mL min blood or 2 mL min Bone Marrow)
Transport Temperature: Refrigerated.

 

Note: Ship immediately to maintain sample stability. Stable for only 72 hours room temperature.

Computer Interface Code

PDM #  5907501

Useful For

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.