Test Entry - Detail

MPL Mutation


General
  Clinical Use: Detection of somatic mutations in the MPL gene improve the diagnostic approach to ET and PMF patients negative for JAK2 and CALR mutations. The absence of MPL mutations does not exclude an MPN. This assay is not available as a front line test. It is recommended that testing of the JAK2 V617F and mutation be performed in the first instance, and only if the JAK2 V617F and CALR mutations are negative will MPL then be tested. The assay will only be performed after consultation with a haematologist and the provision of appropriate clinical notes on the request form. Note, MPL testing can be requested concurrently with CALR analysis and will be tested if a negative CALR result is reported in the first instance. Acquired MPL W515K/L gain of function mutations have been described in approximately 10% of primary myelofibrosis(PMF) cases and approximately 3% of essential thrombocythaemia (ET) cases but not in polycythaemia vera or chronic phase chronic myeloid leukaemia.
  Availability: Samples are batched and tested once a week.
  Aliases/Synonyms: W515K,   W515L,  
  Code: HMPL
  Handling Instructions (to laboratory): Send sample ambient.
  Hyperlink:
  Reference Interval:

    


Collection Requirements
  Container: EDTA (LAVENDER),  
  Sample Type: Blood; Bone Marrow
  Minimum Collection Volume:
  Collection Instructions:


Processing Requirements
  Alternate Containers:
  Processing Instructions: Store sample ambient.
  Minimum Assay Volume: 3mL Blood; 1mL Bone Marrow
  Stability:
  Transport Instructions (to testing laboratory): Send sample ambient.


Testing Locations
  Performed at:
Section Department Site Contact Phone
Molecular Haematology Fiona Stanley Hospital 6152 8118


Last Updated : 11-07-2024 09:57