CEBPA Mutation Analysis

Overview

  • EPIC Code:
  • LAB3050
  • Soft Test Code:
  • CEBP
  • Send Out Test Code:
  • 90812
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.


Specimen Collection & Preparation

Specimen Requirements

5.0 mL Whole Blood in a Lavender Top Tube(s) - EDTA


Alternate Specimen

1. 3.0 mL bone marrow collected in a Green Top Tube - Na Heparin 

2. Formalin fixed paraffin embedded tissue
    Room temperature: Indefinite
    Refrigerated: Indefinite
    Frozen: See Instructions
Instruction: Don Not Freeze, FFPE is a validated specimen type, however, it is not routinely performed. 

3. 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.  


TransportAndStorage

7 days Ambient
7 days Refrigerated


Collection Instructions

 


Minimum Volume

2.0 mL


Neonatal Volumne

Clinical Interpretation

Reference Range:

Not detected


Methodology:
  • Polymerase Chain Reaction (PCR)

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.


Production Schedule

Sites Performed
  • Quest - Chantilly to San Juan Capistrano
Days Performed
Tuesday
Thursday
Saturday
Departments
  • Sendouts - Genetics
Turn Around Time

3 to 6 days


Coding & Compliance

CDM

00919218


CPT Coding

81218