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CEBPA Mutation Analysis (Client 57774)
Test Code36314
CPT Codes
81218
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
Whole blood: 2 mL • Bone marrow: 1 mL
Other Acceptable Specimens
3 mL Bone marrow • 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: Indefinitely
Refrigerated: Indefinitely
Frozen: See Instructions
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Formalin-fixed paraffin-embedded tissue
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: See Instructions
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
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
A.M. Sets up 3 days a week.
Report Available
Reports in 3 to 4 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 (16158 test code) and FLT3 mutations (test code 90574) is recommended for all patients with CN-AML.
