CEBPA Mutations DNA Screen

Our assay is designed to screen and distinguish biallelic from monoallelic CEBPA mutations. The initial test is a PCR capillary electrophoresis sizing assay of the C-terminal bZIP region that detects >95% of patients with double CEBPA mutations. Patients who are positive by the C-terminal sizing assay (~5-10% of all new cases of AML) go on to further testing to detect an N-terminal mutation.
If no N-terminal mutations are detected by sizing assays, the specimen will be reflexed to complete CEBPA gene sequencing (with an additional charge) to identify rare point mutations.

Mutations in the transcription factor CCAAT/enhancer binding protein alpha (CEBPA) are found in ~5% to 10% of acute myeloid leukemia (AML) with normal cytogenetics. Mutational screening of CEBPA in addition to FLT3-ITD and NPM1 is recommended for new cases of AML. Recent literature suggests that patients with double (biallelic), but not single (monoallelic) CEBPA mutations have a favorable prognosis.

Limit of Detection: 3%

Limit of Detection Sanger sequencing: 20%

Please complete a Hematopathology test request form found at Request Form

Preferred:
Blood: 6mL in Lavender Top (EDTA)

Bone Marrow: 1-2mL in Lavender Top (EDTA)

Tissue, Fluids or Sorted cells: Sterile container in RPMI

Formalin-fixed paraffin embedded tissue (FFPE/PET) block

Slides: 10 unstained

Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.

Extracted DNA from CLIA certified laboratory.

Formalin-fixed paraffin embedded tissue (FFPE/PET)

Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides

Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives