Test Catalog

Test Id : CEBPA

CEBPA Mutations, Gene Sequencing, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Sanger Sequencing

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

CEBPA Mutations, Sequencing

Aliases
Lists additional common names for a test, as an aid in searching

CEBPA

CCAAT Enhancer-Binding Protein Alpha Gene

Normal Karyotype AML

AML Prognosis

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

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

Shipping Instructions

Specimen must arrive within 7 days 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

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP019 Specimen:

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. Hematopathology Patient Information (T676) in Special Instructions

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Paraffin embedded bone marrow aspirate clot Bone marrow biopsies, slides, or paraffin shavings Moderately to severely clotted Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies (preferred) 7 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided

Interpretation
Provides information to assist in interpretation of the test results

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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

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).

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

5 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

DNA 3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports