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Test Code MPLMUT   MPL Mutation Analysis

Performing Laboratory

Northwell Health Laboratories

Methodology

Polymerase Chain Reaction(PCRwith capillary electrophoresis


 

Reference Values

Negative or Positive for Four Mutations: S505N, W515L, W515K, W515A

TAT: 6 - 8 Days

Test Classification and CPT Coding

81402

 

LOINC Code:  62947-7

Specimen Requirements

Container/Tube: Lavender top tube or Yellow ACD tube

Specimen: 3mL EDTA Whole Blood (1 mL min)  or Bone Marrow 1 mL  (0.5  mL min)

Transport Temperature: Refrigerated

Stability:  

  •     Room temperature: 7 days
  •     Refrigerated: 7 days
  •     Frozen: Unacceptable

Computer Interface Code

PDM #  1559701

Useful For

 

The MPL gene is located on chromosome 1p34, it contains 12 exons. MPL mutations lead to a gain of function and receptor activation in the absence of thrombopoietin binding with constitutional activation of the JAK-STAT signaling pathway. The mutations can occur in Essential Thrombcythemia (ET) and Primary Myelofibrosis (PMF) and have not been reported in Polycythemia Vera (PV).

The most common pathological variants causing gain of function in the MPL gene are located in exon 10: W515L, W515K, W515A and S505N.