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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 - Tumor
Test Information: Indication for Study:

Identification of mutations (point mutations, insertions, deletions) in entire coding region of CEBPA gene. CEBPA mutations are found in acute myeloid leukemia (AML). The presence of CEBPA mutations was reported to be associated with significantly better clinical outcome in AML patients with intermediate-risk cytogenetics.
Test Details
Test Code: 9087
Test Includes: Polymerase Chain Reaction and Sequence Analysis of CEBPA gene

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 also be performed on Fresh Frozen Tissue (#9086).

Germline mutation analysis is required if novel mutations are detected. Please see detailed requirements under test code (#9085).

Technical Limitations:

Patient DNA is isolated, purified and subjected to PCR amplification using oligonucleotide primers. Direct sequence analysis of PCR products was performed in both forward and reverse direction. The sensitivity of detection is approximately 20 mutated cells per 100 total cells in the sample (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.

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: Polymerase Chain Reaction (PCR) and Sequence Analysis is performed in both forward and reverse directions of CEBPA gene.
Gene Name: CEBPA
Protein Name: CCAAT/enhancer binding protein alpha
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: FFPE - Slide(s)
Requirements: 5 unstained 5um FFPE slides containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at 20-25C. Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions: Ship at room temperature (20-25C) in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: FFPE - Tumor Block
Requirements: Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at 20-25C. Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions: Ship at room temperature (20-25C) in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: $1,300.00 *Institutional discounts may apply, please call.
CPT Codes: 81403x1


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