MPL Mutation Analysis
Use
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.
Special Instructions
Please direct any questions regarding this test to customer service at 800-345-4363.
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 sensitivity of this assay. Molecular-based testing is highly accurate, but, as in any laboratory test, rare diagnostic errors may occur.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 62947-7
- 48004-6
- 48005-3
- 8251-1
- 62948-5
- 75608-0
- 72486-4
Result Turnaround Time
7-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube or green-top (sodium heparin) tube
Collection Instructions
Submit at room temperature. Indicate date and time of collection on the test request form.
Storage Instructions
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
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.