Medical Genetics Test Details
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|CEBPA Mutation Analysis - Germline|
|Test Information:||Sequencing analysis of germline cells for the region(s) containing the mutation(s) identified in tumor samples|
The CEBPA (CCAAT/enhancer binding protein a) gene is a transcription factor that regulates proliferation and controls terminal granulocytic differentiation. Functional alterations in CEBPA have been identified in acute myeloid leukemia (AML). Recent work has shown that mutations of CEBPA are associated with favorable prognosis in both adult and pediatric AML in the absence of associated cytogenetic abnormalities and FLT3 internal duplication (FLT3-ITD). Latest evidence showed that Germline CEBPA mutations cause dominant inheritance of AML.
This test can be performed if there is a previously identified mutation(s) in CEBPA Mutation Analysis performed on tumor tissue (#9086). If the original novel mutation(s) was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.
This test is designed to distinguish germ line mutation from somatic mutation. The limit of the test is approximately 20 mutated cells in 100 total cells (20%).
Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy. This test is not intended to detect minimal residual disease.
- Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations.
- CEBPA mutations in younger adults with acute myeloid leukemia and normal cytogenetics: prognostic relevance and analysis of cooperating mutations.
|Methodology:||Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells.|
|Protein Name:||CCAAT/enhancer binding protein alpha|
|Sample & Shipping Information|
|Test Requisition:||Tumor Analysis|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
|Turn Around Time:||14 days|
|List Price:||*For Insurance or Institutional Prices, please call.|