MPL Mutation Molecular Detection Build info

Synonyms

  • MPL MUTATION ANALYSIS
  • HLX MPL MUTATION ANALYSIS CASE
  • MPL MUTATION ANALYSIS
  • JAK-2 NEGATIVE MPN DIAGNOSIS, JAK2 V617 NEGATIVE TESTING
  • MPLMUT
  • LAB11404

Short Name

MPL MUTATION ANALYSIS

Procedure Master Number

LAB11404

Procedure ID

115149

Clinical Info

 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.

Specimen Type

Blood, Bone Marrow

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top (EDTA) tube 
Specimen: 1-3 mL of bone marrow or peripheral blood 

Transport Instructions

room temperature or at 4C with ice cold packs

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Polymerase Chain Reaction (PCR) with capillary electrophoresis 

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratory

Northwell Health Laboratories - Manhasset

CPT

81338
 
LOINC Code:  62947-7

PDM

1559701

Results