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JAK2 V617F pin


JAK2 V617F

Methodology: PCR

Clinical Significance:
This real time PCR test detects the exon 14 JAK2 V617F mutation, which is identified in the great majority of polycythemia vera (PV) cases as well as in other non-CML myeoloproliferative disorders. The JAK2 V617F mutation causes a constitutive activation of the JAK2 tyrosine kinase, which is believed to confer erythropoietin hypersensitivity and erythropoietin-independent survival of the myeloid stem cell. Additionally, these diseases may also transform into acute myeloid leukemia. Thus, detection of the JAK2 (V617F) mutation provides important confirmation of non-CML MPD. Type: Real-Time PCR, Qualitative

Organ: Skin & Mucosa

Disease State: Myeloproliferative Neoplasms, Including Chronic Myelogenous Leukemia (CML)

CPT Code(s): 81270; 88381 may apply (reference only; CPTs may vary)

Turnaround Time: Within 4-8 business days of receipt

Schedule: Wednesday

Specimen Requirements:
• Peripheral blood, Preferred: 5 ml in EDTA (purple top) / Acceptable: 5 ml in sodium heparin (green top) - OR - • Bone marrow aspirate, Preferred: 1-2 ml in EDTA (purple top) / Acceptable: 1-2 ml in sodium heparin (green top) - OR - • Fresh tissue in RPMI - OR - • Formalin-fixed, paraffin-embedded tissue (FFPE)