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MPL Exon 10 Mutation Analysis
Also known as : [cMPL]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology


Specimen Collection

CPD

2 mL CPD Blood (Preferred)

EDTA

2 mL EDTA Blood
Turnaround Time: Between 2 weeks and 4 weeks
Diagnostic Use and Interpretation

MPL gene exon 10 mutations can be used in the diagnosis of the myeloproliferative neoplasms essential thrombocythemia (ET) & primary myelofibrosis (PMF). T he most prevalent mutations in ET and PMF are JAK2 V617F (55-65%), Calreticulin (15-25%) and MPL (3-5%).
The MPL gene encodes the receptor for thrombopoietin and to date the mutations reported in ET and PMF patients have clustered within exon 10 with those affecting W515 and S505 representing the vast majority. These are activating mutations which result in autonomous activation of MPL and thrombocytosis.


Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital (09) 307 4949
Lablink ext 22000
Prof. Peter Browett (Haematologist) ext 9090-86281
Dr. Imogen Caldwell (Haematologist) ext 22006
Nikhil Ghallayan (Section Leader) ext 22005
Molecular Haematology Office ext 22005

For more information about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page



Last updated at 15:36:59 07/03/2024