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Test ID: CEBPA CEBPA Mutations, Gene Sequencing, Varies

Useful For

Initial evaluation of acute myeloid leukemia, both for assigning an appropriate diagnostic subclassification and as an aid for determining prognosis

Reporting Name

CEBPA Mutations, Sequencing

Specimen Type

Varies


Advisory Information


This test is intended for use at the time of diagnosis and not for disease monitoring.



Shipping Instructions


Specimen must arrive within 7 days (168 hours) of collection.



Necessary Information


The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Peripheral Blood

Container/Tube: EDTA (lavender top or ACD (yellow top)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow

Container/Tube: EDTA (lavender top) or ACD (yellow top)

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


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 7 days

Clinical Information

Acute myeloid leukemia (AML) with mutated CCAAT/enhancer-binding protein alpha (CEBPA) gene is a diagnostic category in the current WHO classification of hematopoietic neoplasms.(1) In addition, CEBPA mutation on both alleles (so-called double mutation 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 mutations is necessary for accurate diagnosis in the current classification system and contributes prognostic information for a large group of AML patients.

Interpretation

The results will be given as positive or negative for CEBPA mutation and, if positive, the mutation will be described and single or double mutation status will be indicated.

Clinical Reference

1. Swerdlow S, Campo E, Harris N, et al: WHO classification of tumours of haematopoietic and lymphoid tissues. WHO Press 2008; pp 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

Day(s) and Time(s) Performed

Monday through Friday

Analytic Time

5 days

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

81218-CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence                                                    

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CEBPA CEBPA Mutations, Sequencing 75009-1

 

Result ID Test Result Name Result LOINC Value
MP019 Specimen: 31208-2
34634 Final Diagnosis: 34574-4

Reference Values

An interpretive report will be provided

Method Name

Mutation Detection in DNA Using Sanger Sequencing

Forms

1. Hematopathology Patient Information (T676) in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-acute-leukemia-myelodysplastic-syndromes