Acute myelogenous leukemia (AML)
PCR amplification, fragment analysis, and direct sequencing of the coding and junctional regions of the CEBPA gene.
*Performed by affiliate laboratory
5.0 mL (min. 3.0 mL) whole blood or (min. 2.0 mL) bone marrow Heparin, EDTA, or ACD
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.)
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
No mutation detected.
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 complete penetrance.
The gene CEBPA encodes a transcription factor important for granulocyte differentiation. Diminished activity contributes to the leukemic transformation of myeloid progenitor cells.