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MPL Mutation Analysis
Message*Collect specimen Monday through Friday only before 1500 EST. Do not collect the day before a holiday.
Test Code
LAB00112
Alias/See Also
LAB00112
LabCorp TC: 489150
LabCorp TC: 489150
CPT Codes
81338
Preferred Specimen
5.0 mL Lavender (EDTA) - Whole Blood
Minimum Volume
3.0 mL Lavender (EDTA) - Whole Blood
Other Acceptable Specimens
Dark Green Top (Sodium Heparin)
1.0 mL Bone Marrow
1.0 mL Bone Marrow
Transport Temperature
Refrigerated
Specimen Stability
Refrigerated: 72 hours
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material.
Methodology
Polymerase Chain Reaction (PCR) and DNA sequencing
Report Available
7-12 days
Limitations
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 sensitvity of this assay. Molecular-based testing is highly accurate, but, as in any laboratory test, rare diagnostic errors may occur.
Clinical Significance
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.
Performing Laboratory
LabCorp