Test Name
CEBPA Mutation Analysis
Test Code
M CEBPA*
Associations
Acute myelogenous leukemia (AML)
Reflex Testing
CEBPA is ordered as part of the AML mutational profile.
CPT Codes
83891,83891x4,83892x4,83904x4,83912
Turnaround Time
10 days
Specimen Requirements
5.0 mL (min. 3.0 mL) whole blood or (min. 2.0 mL) bone marrow Heparin, EDTA, or ACD
Specimen Stability
Stable 18-25°C for 1 week Stable 4°C for up to 14 days
Storage & Handling
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.)
Causes for Rejections
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
Description
Mutations in CEBPA are found in 15-18% of cases of cytogenetically normal AML and are associated with a favorable prognosis. Germline mutations in CEBPA are a cause of nonsyndromic, familial AML. Inheritance appears to be autosomal dominant with high to c
References
- Pabst T et al. (2008). Somatic CEBPA mutations are a frequent second event in families with germline CEPBA mutations and familial acute myeloid leukemia. J Clin Oncol. 26:5088-93.
- Arber DA et al. (2008). Acute myeloid leukaemia with recurrent genetic abnormalities. In: Swerdlow SH, Campo E, Harris NL et al., eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. Lyon, France: WHO Press. 110-23.
- Leroy H et al. (2005). CEBPA point mutations in hematological malignancies. Leukemia. 19:329-34.
- Smith ML et al. (2004). Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 351:2403-7.
