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MPL Mutation

TEST NAME

– MPL Mutation
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ABOUT TEST

– A large number of patients with thrombocythemia (ET) or myelofibrosis (MF) are negative for JAK2 mutations. A gene named MPL coding for thrombopoietin receptor, found at chromosome 1p34 and with acquired mutations of W515L and W515K is associated with severe anemia and has been detected in patients with ET or MF but not in patients with PV. Mutations in MPL are investigated after the JAK2 mutation has been ruled out in BCR/ABL1-negative MPNs
The presence of a MPL W515L mutation is consistent with ET or MF and meets the WHO diagnostic criterion for establishing clonality. MPL S505N is consistent with familial ET. A negative finding does not rule out ET or MF
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GENES TESTED


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SAMPLE REQUIREMENTS

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TAT

– 17
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Related Tests

– JAK2 V617V mutation, BCR/ABL by PCR (Major breakpoint) and CALR Mutation
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