CEBPA Mutation Analysis

CPT: 81218
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Test Details


The CEBPA (CCAAT/enhancer binding protein α) gene encodes a transcription factor important for granulocyte differentiation. CEBPA mutations are found in 6% to 15% of de novo acute myeloid leukemia (AML) and in 15% to 18% of AML with normal karyotypes. CEBPA mutations are associated with favorable prognosis in the absence of associated cytogenetic abnormalities and FLT3 internal duplication (FLT3-ITD). Germline CEBPA mutations are a cause of nonsyndromic, familial AML.


This assay has a sensitivity to detect approximately 10% population of cells containing the CEBPA mutations in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of this assay.


Polymerase chain reaction (PCR); direct sequencing; capillary electrophoresis

Specimen Requirements


Whole blood or bone marrow


3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow


Lavender-top (EDTA) tube or green-top (sodium heparin) tube


Indicate date and time of collection on the test request form. Submit specimen at room temperature.

Storage Instructions

Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.

Causes for Rejection

Quantity not sufficient for analysis; hemolysis; frozen specimen; clotted blood specimen

Clinical Information

Special Instructions

Please direct any questions regarding this test to customer service at 800-345-4363.


Ho PA, Alonzo TA, Gerbing RB, et al. Prevalence and prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia (AML): A report from the Children's Oncology Group. Blood. 2009 Jun 25; 113(26):6558-6566. 19304957
Renneville A, Boissel N, Gachard N, et al. The favorable impact of CEBPA mutations in patients with acute myeloid leukemia is only observed in the absence of associated cytogenetic abnormalities and FLT3 internal duplication. Blood. 2009 May 21; 113(21):5090-5093. 19289855
Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004 Dec 2; 351(23):2403-2407. 15575056

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