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


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


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



The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.