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CEBPA Mutation Analysis


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


Specimen Collection
CPD3 mL CPD Bone Marrow (Preferred)
EDTA3 mL EDTA Blood
EDTA3 mL EDTA Bone Marrow
CPD3 mL CPD Blood
Turnaround Time: Between 1 week and 2 weeks
Diagnostic Use and Interpretation

CCAAT enhancer binding protein alpha (CEBPA) is a protein which plays a  role in myeloid differentiation. Mutations in CEBPA occur in approximately 10-15% of cytogenetically  normal AML patients and those who do not have a FLT3 mutation are considered to have a more  favourable outcome. Mutations are often nonsense mutations in the N-terminal region due to small out  of frame insertion deletions and in frame C-terminal mutations in the DNA-binding or leucine zipper  domains. Patients may have one or two mutations but the good prognosis is thought to be limited to  double (biallelic) CEBPA mutation positive patients.

References: J Clin Oncol (2008) 26:5078-5087, J Clin Oncol (2010) 28:2739-2747.


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