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MPL 515 Mutation Analysis

CPT 81338

Test Details

Cancer Type

Hematologic malignancies, Myeloproliferative neoplasm (MPN)

Technology Used

Molecular

Turnaround Time

7 - 12 days

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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

Polymerase chain reaction (PCR) and DNA sequencing

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood, bone marrow or cell pellet

Volume

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

Minimum Volume

3 mL whole blood or 1 mL bone marrow

Container

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

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.

Collection

Submit at room temperature. Indicate date and time of collection on the test request form.

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