CEBPA Mutation Analysis

The Molecular Diagnostics Laboratory offers DNA testing to detect mutations in CEBPA associated with acute myeloid leukemia (AML). The test is useful for risk stratification in patients with cytogenetically normal acute myeloid leukemia (AML) as well as evaluation for familial AML.

Cytogenetic abnormalities in AML are useful diagnostic markers and prognostic factors for remission, relapse and survival. However, 40-49% of adults and 25% of children with AML are cytogenetically normal (CN). The CEBPA test measures a molecular marker of prognostic significance in CN-AML patients.

The gene CEBPA encodes a transcription factor important for granulocyte differentiation; diminished activity contributes to the leukemic transformation of myeloid progenitor cells. Mutations in CEBPA are associated with a favorable prognosis.

Methodology
CEBPA mutations are detected and characterized by a combination of PCR amplification, fragment analysis, and direct sequencing of the coding and junctional regions of the gene. Germline mutations are detected by PCR amplification and direct sequencing of the coding and junstion regions of the gene.

Ordering Information
Sample Requirements: 3-5 mL EDTA whole blood or 2-5 mL EDTA bone marrow
Shipping Information: Room Temperature
CPT Codes (Mutation Analysis): 83891, 83892x4, 83898x4, 83900, 83901, 83904x4, 83909x3, 83912
CPT Codes (Familial Evaluation): 83891, 83898x4, 83892x4, 83904x4, 83912
Turnaround Time: 7-10 days
Download a requisition

Contact Us
For more information regarding the service, please contact our Diagnostic Laboratories Account Manager Mike Janasik, (414) 937-6290, or michael.janasik@bcw.edu