CEBPA Mutation Analysis
Use
The CEBPA (CCAAT/enhancer binding protein α) gene encodes a transcription factor important for granulocyte differentiation. CEBPA mutations are found in 6% to 15% of de novo acute myeloid leukemia (AML) and in 15% to 18% of AML with normal karyotypes. CEBPA mutations are associated with favorable prognosis in the absence of associated cytogenetic abnormalities and FLT3 internal duplication (FLT3-ITD). Germline CEBPA mutations are a cause of nonsyndromic, familial AML.
Special Instructions
Not provided.
Limitations
This assay has a sensitivity to detect approximately 10% to 20% Variant Allele Fraction (VAF). This assay will not detect mutations present below the sensitivity of the assay.
Methodology
PCR-based
Biomarkers
CEBPA
Gene
LOINC Codes
- 64012-8 - CEBPA gene Mut Anl Bld/T
- 64012-8 - CEBPA gene Mut Anl Bld/T
- 48005-3 - Amino acid change
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection Instructions
Indicate date and time of collection on the test request form. Submit specimen at room temperature.
Storage Instructions
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow; a grossly hemolyzed specimen or otherwise visibly degraded; specimen suspected of being contaminated by another specimen; specimen contains specific foreign material
Other tests from different labs that may be relevant