Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CCAAT/Enhancer-binding protein

The gene encoding an important myeloid transcription factor is mutated in cells of acute myeloid leukemia (somatic mutation) and in patients with autosomal dominant familial acute myeloid leukemia (germline mutation).

Genetests:

Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

References:

1.

Barjesteh van Waalwijk van Doorn-Khosrovani S et al. (2003) Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML.

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2.

Smith ML et. al. (2004) Mutation of CEBPA in familial acute myeloid leukemia.

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Update: Sept. 26, 2018