This test is not intended to be used for disease monitoring.
Sanger Sequencing
CEBPA
CCAAT Enhancer-Binding Protein Alpha Gene
Normal Karyotype AML
AML Prognosis
Varies
This test is intended for use at the time of diagnosis and not for disease monitoring.
Specimen must arrive within 7 days of collection.
The following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date of collection
4. Specimen source
Question ID | Description | Answers |
---|---|---|
MP019 | Specimen: |
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube. Do not aliquot
3. Label specimen as blood.
Specimen Stability: Ambient (preferred)/Refrigerate
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
3. Label specimen as bone marrow.
Specimen Stability: Ambient (preferred)/Refrigerate
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5 to 2 mL tube
Specimen Volume: Entire specimen
Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and provide indication of volume and concentration of the DNA.
Specimen Stability: Frozen (preferred)/Refrigerate/Ambient
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
1 mL
Gross hemolysis | Reject |
Paraffin embedded bone marrow aspirate clot Bone marrow biopsies, slides, or paraffin shavings Moderately to severely clotted | Reject |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies | 7 days |
This test is not intended to be used for disease monitoring.
Acute myeloid leukemia (AML) with an altered CCAAT/enhancer-binding protein alpha (CEBPA) gene is a diagnostic category in the current World Health Organization (WHO) classification of hematopoietic neoplasms.(1) In addition, CEBPA variants on both alleles (so-called double variant status) is considered a good prognostic feature in adults with newly diagnosed AML who have a normal karyotype or do not contain an alternate diagnostic genetic abnormality.(2,3) Thus, evaluation for CEBPA variants is necessary for accurate diagnosis in the current classification system and contributes prognostic information for a large group of AML patients.
An interpretive report will be provided
The results will be given as positive or negative for CEBPA variant; if positive, the variant will be described, and single or double variant status will be indicated.
1. Swerdlow S, Campo E, Harris N, et al: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. WHO Press; 2008:109-145
2. Wouters B, Lowenberg B, Erpelinck-Verschueren C, et al: Double CEBPA mutations, but not single CEBPA mutations, define a subset of acute myeloid leukemia with a distinctive expression profile that is uniquely associated with a favorable outcome. Blood. 2009;113:3088-3091
3. Pabst T, Eyholzer M, Fos J, et al: Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis. Br J Cancer. 2009;100:1343-1346
4. Pulikkan JA, Tenen DG, Behre G: C/EBP alpha deregulation as a paradigm for leukemogenesis. Leukemia 2017;31:2279-2285
Total DNA is extracted from the sample and the entire, single exon of CEBPA amplified by polymerase chain reaction followed by Sanger sequencing with evaluation by capillary electrophoresis. Review of the sequence data is performed using a combination of automated calls and manual inspection.(Unpublished Mayo method).
Monday through Friday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
81218-CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
CEBPA | CEBPA Mutations, Sequencing | 75009-1 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
MP019 | Specimen: | 31208-2 |
34634 | Final Diagnosis: | 34574-4 |