CEBPA Mutation Analysis
Test Code
Clinical Significance
CEBPA Mutation Analysis - The CEBPA gene, a myeloid transcription factor, is mutated in a subset of acute myeloid leukemia (AML), particularly those with chromosome analyses showing normal diploid karyotype, Cytogenetically Normal (CN). CN-AML that have CEBPA mutations show favorable outcome compared to other groups of CN-AML.
Testing for CEBPA mutation, along with NPM1 (test code 16158-NPM (Exon 12) Mutation Analysis, Cell-based) is recommended for all patients with CN-AML.
Test Resources
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Test Details
Methodology
Reference Range(s)
Preferred Specimen(s)
5 mL whole blood collected in an EDTA (lavender-top) tube
Alternative Specimen(s)
Bone marrow collected in: Sodium heparin (green-top) tube • Formalin-fixed paraffin embedded tissue • Cell pellet
Minimum Volume
2 mL
Collection Instructions
Cell pellet: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported at room temperature or refrigerated to the laboratory as soon as possible.
Please provide a copy of the Cytogenetics report.
Note: FFPE is a validated specimen type, however, it is not routinely performed.
Transport Container
EDTA (lavender-top) tube
Transport Temperature
Room temperature
Specimen Stability
- Room temperature: 7 days
- Refrigerated: 7 days
- Frozen: Unacceptable
Reject Criteria
Gross hemolysis • Received frozen
Setup Schedule
Please provide a copy of the Cytogenetics report.
Note: FFPE is a validated specimen type, however, it is not routinely performed.
Refrigerated: 7 days
Frozen: Unacceptable