MPL Mutation Analysis

CPT: 81402
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Test Details


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

Specimen Requirements


Whole blood or bone marrow


3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow


Lavender-top (EDTA) tube or green-top (sodium heparin) tube


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

Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis

Clinical Information

Special Instructions

Please direct any questions regarding this test to customer service at 800-345-4363.


Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: Discovery and science. Leukemia. 2008 Oct; 22(10):1813-7. 18754026
Liu K, Martini M, Rocca B, et al. Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. Haematologica. 2009 Oct; 94(10):1368-1374. 19608689
Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006 Nov 15; 108(10):3472-3476. 16868251


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

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