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HelpTest Code LAB1819 CEBPA DNA Screen
Clinical System Name
CEBPA Mutation DNA Screen
Description
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.
This test is not intended to be used for minimal residual disease (MRD)
Sample Requirements
Specimen: Whole Blood or Bone Marrow
Container(s): Lavender/EDTA (preferred) or Dark Green/Sodium Heparin
Blood: 6 mL
Bone Marrow: 1-2 mL
Minimum Vol: No microtainer collections. Blood: 1mL EDTA/ BMA: 0.5mL EDTA/Tissue Blocks: 5 curls/Slides: 5 slides
Note: Record specimen type and date/time of collection on label. While green top tubes are accepted for testing, there is documentation that heparin can interfere with some PCR assays.
For more detailed info for bone marrow testing, see separate Bone Marrow Aspirate listing.
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 4 C
Notes: Affix large Cerner label to vacutainer.
Storage location: Store sample in CPA refrigerator Send Outs rack, including after hours and on weekends. Sample will be sent next weekday.
Off-site collection: Contact UW Hematopathology at (206) 288-7060 for instructions.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Room temp | 24 h | |
| Refrigerated | 72 h | |
| Frozen | Unacceptable |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | M - F | 2 w |
Performing Laboratory
University of Washington
Dept. of Laboratory Medicine
UW Molecular Hematopathology Laboratory
1959 NE Pacific St, NW 220
Seattle, WA 98195
Phone Number: (206) 288-7070
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Reference Range
None specified.
Methodology
Method: PCR amplification of the bZIP region of the CEBPA gene with reflex testing for positive patients (see Clinical Utility
Analytical Volume: 6.0 mL Whole Blood; 1.0 mL Bone Marrow
Limitations: This test is not intended to be used for minimal residual disease (MRD)
Special Instructions
Place test orders in EMR.
For bone marrow, use order "HemOnc Bone Marrow Requisition" or "Hematopoietic Transplant Marrow Requisition", as appropriate.
Clinical Utility
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. Our assay is designed to 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 to identify rare point mutations.
Send Out Instructions
| Reference Test Name: | CEBPA Mutations DNA Screen |
| Reference Test Number: | CEBPA |
| Instructions: | Send Monday through Friday with the UW courier. |