CEBPA Mutation Analysis

CPT: 81218
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Test Details

Use

The CEBPA (CCAAT/enhancer binding protein α) gene encodes a transcription factor important for granulocyte differentiation. CEBPA mutations are found in 6% to 15% of de novo acute myeloid leukemia (AML) and in 15% to 18% of AML with normal karyotypes. CEBPA mutations are associated with favorable prognosis in the absence of associated cytogenetic abnormalities and FLT3 internal duplication (FLT3-ITD). Germline CEBPA mutations are a cause of nonsyndromic, familial AML.

Limitations

This assay has a sensitivity to detect approximately 10% population of cells containing the CEBPA mutations in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of this assay.

Methodology

Polymerase chain reaction (PCR); direct sequencing; capillary electrophoresis

Specimen Requirements

Specimen

Whole blood or bone marrow

Volume

3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow

Container

Lavender-top (EDTA) tube or green-top (sodium heparin) tube

Collection

Indicate date and time of collection on the test request form. Submit specimen at room temperature.

Storage Instructions

Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.

Causes for Rejection

Quantity not sufficient for analysis; hemolysis; frozen specimen; clotted blood specimen

Clinical Information

Special Instructions

Please direct any questions regarding this test to customer service at 800-345-4363.

References

Ho PA, Alonzo TA, Gerbing RB, et al. Prevalence and prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia (AML): A report from the Children's Oncology Group. Blood. 2009 Jun 25; 113(26):6558-6566. 19304957
Renneville A, Boissel N, Gachard N, et al. The favorable impact of CEBPA mutations in patients with acute myeloid leukemia is only observed in the absence of associated cytogenetic abnormalities and FLT3 internal duplication. Blood. 2009 May 21; 113(21):5090-5093. 19289855
Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004 Dec 2; 351(23):2403-2407. 15575056

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489170 CEBPA Mutation Analysis 489171 CEBPA Mutation Analysis Result 64012-8
489170 CEBPA Mutation Analysis 481571 Nucleotide Change: 64012-8
489170 CEBPA Mutation Analysis 481572 Amino Acid Change: 48005-3
489170 CEBPA Mutation Analysis 489172 Background: 77202-0
489170 CEBPA Mutation Analysis 489176 Methodology: 49549-9
489170 CEBPA Mutation Analysis 489174 References: 75608-0
489170 CEBPA Mutation Analysis 489175 Director Review: 72486-4

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf