CEBPA Mutation Analysis

Test Code

90812

CPT Codes
81218

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

2 mL

Other Acceptable Specimens

Bone marrow collected in: Sodium heparin (green-top) tube • Formalin-fixed paraffin embedded tissue • Cell pellet

Instructions

Cell pellet: 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.

Note: FFPE is a validated specimen type, however, it is not routinely performed.

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Gross hemolysis • Received frozen

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

Mon

Reference Range

Not detected

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.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.