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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
Whole blood or bone marrow
3 to 5 mL whole blood or 1 to 2 mL bone marrow
3 mL whole blood or 1 mL bone marrow
Indicate date and time of collection on the test request form. Submit specimen at room temperature.
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
Please direct any questions regarding this test to customer service at 800-345-4363.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|489170||CEBPA Mutation Analysis||481571||Nucleotide Change:||64012-8|
|489170||CEBPA Mutation Analysis||481572||Amino Acid Change:||48005-3|
|489170||CEBPA Mutation Analysis||489171||CEBPA Mutation Analysis Result||64012-8|
|489170||CEBPA Mutation Analysis||489172||Background:||77202-0|
|489170||CEBPA Mutation Analysis||489174||References:||75608-0|
|489170||CEBPA Mutation Analysis||489175||Director Review:||72486-4|
|489170||CEBPA Mutation Analysis||489176||Methodology:||49549-9|