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CEBPA Mutation Analysis

Test Number 489170
Test number copied
CPT

81218

Test Details

Methodology

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

Result 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

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.

Special Instructions

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

Limitations

This assay has a sensitivity to detect approximately 10% to 20% Variant Allele Fraction (VAF). This assay will not detect mutations present below the sensitivity of the 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.

 

 

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

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 Instructions

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489170 CEBPA Mutation Analysis 64012-8 489171 CEBPA Mutation Analysis Result 64012-8
489170 CEBPA Mutation Analysis 64012-8 481571 Nucleotide Change: 64012-8
489170 CEBPA Mutation Analysis 64012-8 481572 Amino Acid Change: 48005-3
489170 CEBPA Mutation Analysis 64012-8 489172 Background: 77202-0
489170 CEBPA Mutation Analysis 64012-8 489176 Methodology: 49549-9
489170 CEBPA Mutation Analysis 64012-8 489174 References: 75608-0
489170 CEBPA Mutation Analysis 64012-8 481528 Disclaimer: N/A
489170 CEBPA Mutation Analysis 64012-8 489175 Director Review: 72486-4
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code489171
Result Code NameCEBPA Mutation Analysis Result
UofM
Result LOINC64012-8
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code481571
Result Code NameNucleotide Change:
UofM
Result LOINC64012-8
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code481572
Result Code NameAmino Acid Change:
UofM
Result LOINC48005-3
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code489172
Result Code NameBackground:
UofM
Result LOINC77202-0
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code489176
Result Code NameMethodology:
UofM
Result LOINC49549-9
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code489174
Result Code NameReferences:
UofM
Result LOINC75608-0
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code481528
Result Code NameDisclaimer:
UofM
Result LOINCN/A
Order Code489170
Order Code NameCEBPA Mutation Analysis
Order Loinc64012-8
Result Code489175
Result Code NameDirector Review:
UofM
Result LOINC72486-4