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:

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

Related Diseases:

References:

1.

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

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2.

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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3.

NCBI article

NCBI 1050 [^]
4.

OMIM.ORG article

Omim 116897 [^]
5.

Orphanet article

Orphanet ID 233165 [^]
6.

Wikipedia article

Wikipedia EN (CEBPA) [^]
Update: April 29, 2019