MPL Mutation
 
 

MPL Mutation

Order name:
MPL mutation

Specimen Requirements:
Peripheral blood or bone marrow

Minimum volume:
0.5mL

Storage and stability information:
Refrigerated, one week

Test performed:
Once per week

Methodology:
PCR followed by fragment analysis

Reference Range:
No MPL Mutations detected

CPT code:
81402

Clinical significance:
Patients with Jak2 V617 negative essential thrombocythemia (ET) or primary myelofibrosis (PMF) may have a mutation of the MPL gene; presence of an MPL mutation can help confirm diagnosis of a Myeloproliferative neoplasm (MPN). An MPL mutation is present in 3-5% of ET cases and 5-10% of PMF cases. MPL mutations have not been detected in polycythemia vera (PV), and therefore can help distinguish ET and PMF from PV. This test detects the most common MPL mutations, accounting for approximately 98% of MPL mutations; W515K, W515L, W515A and S505N.