CEBPA Mutation Analysis
Use
The CEBPA gene, a myeloid transcription factor, is mutated in a subset of acute myeloid leukemia (AML), particularly those with cytogenetically normal (diploid) karyotypes. Patients with CN‑AML harboring CEBPA mutations demonstrate a favorable prognosis relative to other CN‑AML groups. Testing for CEBPA mutations, alongside NPM1 mutation analysis, is recommended for all patients with cytogenetically normal AML.
Special Instructions
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. The assay has been validated under CLIA regulations and is used for clinical purposes. For cell pellet specimens (remnant from Cytogenetics), please also provide a copy of the Cytogenetics report. FFPE is validated but not routinely performed.
Limitations
Not provided.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
EDTA (lavender‑top) tube
Causes for Rejection
Gross hemolysis • Received frozen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |