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CEBPA Mutation Analysis
Test Code90812
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL
Other Acceptable Specimens
3 mL bone marrow collected in a sodium heparin (green-top) tube • Formalin-fixed paraffin embedded tissue • Cell pellet
Instructions
Do not freeze. FFPE is a validated specimen type, however, it is not routinely performed.
Cell Pellet Instructions: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported at room temperature or refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.
Cell Pellet Instructions: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported at room temperature or refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.
Transport Temperature
Room temperature
Specimen Stability
Whole blood or bone marrow
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Formalin-fixed paraffin-embedded tissue
Room temperature: Indefinite
Refrigerated: Indefinite
Frozen: See Collection Instructions
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Formalin-fixed paraffin-embedded tissue
Room temperature: Indefinite
Refrigerated: Indefinite
Frozen: See Collection Instructions
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues, Thurs, Sat; Report available: 3-6 days
Clinical Significance
The CEBPA gene, a myeloid transcription factor, is mutated in a subset of acute myeloid leukemia (AML), particularly those with chromosome analyses showing normal diploid karyotype, Cytogenetically Normal (CN). CN-AML that have CEBPA mutations show favorable outcome compared to other groups of CN-AML.
Testing for CEBPA mutation, along with NPM1 (test code 16158-NPM (Exon 12) Mutation Analysis, Cell-based) is recommended for all patients with CN-AML.
Testing for CEBPA mutation, along with NPM1 (test code 16158-NPM (Exon 12) Mutation Analysis, Cell-based) is recommended for all patients with CN-AML.
