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This real time PCR assay detects somatic mutations in codon 515 of the “myeloproliferative leukemia virus oncogene” (“MPL”). These mutations occur in chronic myeloproliferative neoplasms, including primary myelofibrosis (PMF) and essential thrombocythemia (ET). MPL codon 515 (W515) mutations are found in ~3-4% of patients with ET and ~7-8% of patients with PMF; the identification of an MPL mutation fulfills one of the WHO major diagnostic criteria for these diseases. MPL mutations are usually found in chronic myeloproliferative neoplasm cases that are negative for the JAK2 V617F mutation and Calreticulin exon 9 mutations.
Organ: Blood/Bone Marrow
Disease State: Myeloproliferative Neoplasms (non-CML)
CPT Code(s): 81402; 88381 may apply (reference only; CPTs may vary)
Turnaround Time: Within 5-8 business days of receipt
Schedule: Monday (run and analyzed same day)
• 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 - • Formalin-fixed, paraffin-embedded tissue (FFPE) block or 10 unstained FFPE slides.