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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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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
Test Details
Test Code: 9085
Special Notes: 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 FFPE samples (#9087) or Bone Marrow and Leukemic blood (#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.

Technical Limitations:

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.
Useful Publications:
- 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.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells.
Gene Name: CEBPA
Protein Name: CCAAT/enhancer binding protein alpha
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Blood
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
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81403x1


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