HLX MPL Mutation Analysis Case MPLMUT

Synonyms

Allscripts (AEHR) Order Name

MPL Mutation Analysis Case

Sunrise Clinical Manager (SCM) Order Name

MPL Mutation Analysis

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 Temperature: room temperature or at 4C with ice cold packs

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

81402
 
LOINC Code:  62947-7

PDM

1559701

Result Interpretation

An interpretative report will be provided.

Forms

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