CEBPA Mutations DNA Screen
General Information
- Lab Name
- CEBPA Mutations DNA Screen
- Lab Code
- CEBPA
- Epic Name
- CEBPA Mutations DNA Screen
- Description
Our assay is designed to screen and distinguish biallelic from monoallelic CEBPA mutations. The initial test is a PCR capillary electrophoresis sizing assay of the C-terminal bZIP region that detects >95% of patients with double CEBPA mutations. Patients who are positive by the C-terminal sizing assay (~5-10% of all new cases of AML) go on to further testing to detect an N-terminal mutation.
If no N-terminal mutations are detected by sizing assays, the specimen will be reflexed to complete CEBPA gene sequencing (with an additional charge) to identify rare point mutations.Mutations in the transcription factor CCAAT/enhancer binding protein alpha (CEBPA) are found in ~5% to 10% of acute myeloid leukemia (AML) with normal cytogenetics. Mutational screening of CEBPA in addition to FLT3-ITD and NPM1 is recommended for new cases of AML. Recent literature suggests that patients with double (biallelic), but not single (monoallelic) CEBPA mutations have a favorable prognosis.
Limit of Detection: 3%
Limit of Detection Sanger sequencing: 20%
Please complete a Hematopathology test request form found at Request Form
- Forms & Requisitions
- Synonyms
- Acute Myeloid Leukemia, AML, CCAAT/enhancer binding protein alpha, CEBP, CEBP-alpha
- Components
-
Code Name CEBSD CEBPA Specimen Description CEBRES CEBPA Mutations Screen Result CEBINT CEBPA Mutations Interpretation CEBMTH CEBPA Methods and Info CEBGRN CEBPA Case Number
Interpretation
- Guidelines
- Method
PCR amplification of the bZIP region of the CEBPA gene
- Reference Range
- See individual components
Ordering & Collection
- Specimen Type
- Blood, Bone Marrow, Tissue - Fresh, frozen or FFPE/PET (Blocks), Fluids, Slides, Sorted Cells
- Collection
-
Preferred:
Blood: 6mL in Lavender Top (EDTA)Bone Marrow: 1-2mL in Lavender Top (EDTA)
Tissue, Fluids or Sorted cells: Sterile container in RPMI
Formalin-fixed paraffin embedded tissue (FFPE/PET) block
Slides: 10 unstained
Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.Extracted DNA from CLIA certified laboratory.
Formalin-fixed paraffin embedded tissue (FFPE/PET)
Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides
Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives - Forms & Requisitions
- Handling Instructions
- Deliver samples to Hematopathology as soon as possible.
- If sample is older than 48 hours, please store at 2-6°C upon receipt and send refrigerated.
- Samples stored at room temperature or refrigerated older than 7 days will be rejected.
- Frozen samples should be shipped on dry ice.
- Quantity
-
Requested: Blood: 6mL EDTA/BMA: 1-2mL EDTA/Tissue Blocks: Adequate size to cut 10-20 curls/Slides: 10 unstained
Minimum: Blood: 1mL EDTA/ BMA: 0.5mL EDTA/Tissue Blocks: 5 curls/Slides: 5 slides
Processing
- Receiving Instructions
Send specimens to Hematopathology – Molecular department for processing.
The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected.
- Misc Sendout
Performance
- Lab Department
- Molecular Hematopathology(MHP)
- Frequency
- Testing daily Monday - Saturday, results available within 24hrs. EVALHD reflexed or add-on orders may take up to 5 days to complete.
- Available STAT?
- No
- Performing Location(s)
-
Other Hematopathology, Molecular
206-606-7060UW Hematopathology Laboratory, G7-800
Fred Hutchinson Cancer Center
825 Eastlake Avenue E.
Seattle, WA 98109Hematopathology, Molecular hours:
7:00 am - 5:30 pm M-F
8:00 am - 4:30 pm Saturday, closed on Sunday, and with reduced staffing on major holidays
Billing & Coding
- CPT Codes
- 81479
- LOINC
- 64012-8
- Interfaced Order Code
- UOW1996