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MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.
Genomic DNA was purified from the provided specimen. MPL gene regions covering the S505N and W515L/K mutations were subjected to PCR amplification and bidirectional sequencing in duplicate to identify sequence variations. This assay has a sensitivity to detect approximately 10% population of cells containing the MPL mutations in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of this assay. Molecular-based testing is highly accurate, but, as in any laboratory test, rare diagnostic errors may occur.
Polymerase chain reaction (PCR) and DNA sequencing
Whole blood or bone marrow
3 to 5 mL whole blood or 1 to 2 mL bone marrow
3 mL whole blood or 1 mL bone marrow
Submit at room temperature. Indicate date and time of collection on the test request form.
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis
Please direct any questions regarding this test to customer service at 800-345-4363.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|489150||MPL Mutation Analysis||489151||MPL Mutation Analysis Result:||62947-7|
|489150||MPL Mutation Analysis||489152||Nucleotide Change:||48004-6|
|489150||MPL Mutation Analysis||489154||Amino Acid Change:||48005-3|
|489150||MPL Mutation Analysis||489155||Background:||8251-1|
|489150||MPL Mutation Analysis||489157||References:||75608-0|
|489150||MPL Mutation Analysis||489158||Director Review:||72486-4|
|489150||MPL Mutation Analysis||489167||Methodology:||62948-5|
|489150||MPL Mutation Analysis||489456||MPL Mutation Analysis||N/A|