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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.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Polymerase chain reaction (PCR); direct sequencing; capillary electrophoresis
Whole blood or bone marrow
3 to 7 mL whole blood or 1 to 2 mL bone marrow
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.
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow; a grossly hemolyzed specimen or otherwise visibly degraded; specimen suspected of being contaminated by another specimen; specimen contains specific foreign material
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||489171||CEBPA Mutation Analysis Result||64012-8|
|489170||CEBPA Mutation Analysis||481572||Amino Acid Change:||48005-3|
|489170||CEBPA Mutation Analysis||489172||Background:||77202-0|
|489170||CEBPA Mutation Analysis||489176||Methodology:||49549-9|
|489170||CEBPA Mutation Analysis||489174||References:||75608-0|
|489170||CEBPA Mutation Analysis||481528||Disclaimer:||N/A|
|489170||CEBPA Mutation Analysis||489175||Director Review:||72486-4|