Special Instructions
Please direct any questions regarding this test to customer service at 800-345-4363.
Expected Turnaround Time
10 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Related Information
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, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) 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
Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow; a grossly hemolyzed specimen or otherwise visibly degraded; specimen suspected of being contaminated by another specimen; specimen contains specific foreign material
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.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
Polymerase chain reaction (PCR); direct sequencing; capillary electrophoresis
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 | 481528 | Disclaimer: | N/A | ||
| 489170 | CEBPA Mutation Analysis | 489175 | Director Review: | 72486-4 |
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