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Acute Myeloid Leukemia (AML) via the CEBPA Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CEBPA 81218 81218 $580
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
996CEBPA81218 81218 $580 Order Options and Pricing

Pricing Comments

CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

4 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Acute Myeloid Leukemia (AML) comprises a phenotypically and genetically heterogeneous group of neoplastic disorders characterized by the accumulation of myeloid precursor cells in the bone marrow and blood. The malignant precursor cells display increased proliferation and a block in normal differentiation and maturation. Accumulating malignant cells replace normal bone marrow and interfere with normal blood cell production causing a decrease in red blood cells and platelets. Symptoms include easy bruising and bleeding, fatigue, and increased risk of infection due to a lack of normal white blood cells. Pathogenic variants have been identified in several genes in AML patients. Approximately 13,000 cases of AML per year are diagnosed in the United States, and according to the results of several studies, CEBPA variants have been identified in 15-18% of cytogenetically normal AML cases (Leroy et al. Leukemia 19(3):329-334, 2005; Frohling et al. J Clin Oncol 22(4):624-633, 2004). CEBPA variants are found in cases of both familial AML and sporadic AML, though instances of the former are rare. The age of onset of AML resulting from CEBPA mutations varies, but is generally earlier in cases of familial AML (early childhood to adult onset) than in cases of sporadic AML (onset around fifth or sixth decade) (Klein and Marcucci. GeneReviews, 2010). Studies so far have indicated that the prognosis of patients with CEBPA-related AML is favorable (Preudhomme et al. Blood 100(8):2717-2723, 2002; Frohling et al., 2004; Bienz et al. Clin Cancer Res 11(4):1416-1624, 2005) thereby highlighting the importance of cytogenetic and molecular testing for AML patients.


CEBPA gene mutations are identified in 15-18% of cytogenetically normal AML cases (Leroy et al., 2005; Frohling et al., 2004). Only a few cases of familial AML have been reported (Smith et al. N Engl J Med 351(23):2403-2407, 2004; Renneville et al. Leukemia 23(4):804-806, 2009), and pathogenic variants in CEBPA displayed a dominant mode of inheritance with high penetrance. CEBPA encodes the transcription factor and tumor suppressor CCAATT enhancer binding protein alpha (C/EBPα) which is upregulated during granulocyte differentiation (Scott et al. Blood 80(7):1725-1735, 1992; Radomska et al. Mol Cell Biol 18(7):4301-4314, 1998). The CEBPA protein consists of two N-terminal transactivation domains and C-terminal leucine zipper and basic domains mediating homo- and hetero-dimerization and DNA-binding. Mutations in CEBPA typically involve either N-terminal frameshifts that result in truncated protein or C-terminal in-frame insertions or deletions that affect the DNA binding domain (Pabst et al. Nat Genet 27(3):263-270, 2001). No obvious genotype-phenotype correlations have been identified.

Clinical Sensitivity - Sanger Sequencing

CEBPA mutations are found in approximately 9% of AML cases and in 15-18% of normal karyotype AML (Klein and Marcucci. Gene Reviews 2010; Leroy et al. Leukemia 19(3):329-334, 2005; Frohling et al. J Clin Oncol 22(4):624-633, 2004).

To date, no gross deletions or duplications have been reported in CEBPA (Human Gene Mutation Database).

Testing Strategy

This test involves bidirectional Sanger sequencing of all coding exons and splice sites of the CEBPA gene. The full coding sequence of each exon plus ~10 bp of flanking DNA on either side are sequenced. We will also sequence any single exon (Test #100) in family members of patients with a known pathogenic variant or to confirm research results.

NOTE: Mutations identified in blood specimens during active AML cannot be categorized as acquired or familial without additional information such as a family history and pedigree, and/or results from testing a non-involved specimen such as skin fibroblasts. Also, in cases of sporadic AML resulting from CEBPA variants, low levels of leukemic cells in bone marrow or blood specimens for example, may not produce a signal that exceeds our limits of detection; negative results from testing should be interpreted in the context of this caveat.

Indications for Test

Family history of AML, an abundance of French-American-British (FAB) Cooperative Group AML Classification subtypes M1 or M2 as established by review of cellular morphology and cytochemistries in blasts in peripheral blood or bone marrow aspirate, Auer rods in blasts in peripheral blood smear or bone marrow aspirate (Auer rods are abnormal, needle-shaped or round, light blue or pink-staining inclusions found in the cytoplasm of leukemic cells), aberrant CD7 expression on blasts in peripheral blood or bone marrow as demonstrated by flow cytometry (Klein and Marcucci. GeneReviews, 2010).


Official Gene Symbol OMIM ID
CEBPA 116897
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Aml - Acute Myeloid Leukemia AD 601626

Related Tests

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Dyskeratosis Congenita (DC) via the TERT Gene


  • Bienz, M. et al. (2005). "Risk assessment in patients with acute myeloid leukemia and a normal karyotype." Clin Cancer Res 11(4):1416-1424. PubMed ID: 15746041
  • Frohling S. et al. (2004). "CEBPA mutations in younger adults with acute myeloid leukemia and normal cytogenetics: prognostic relevance and analysis of cooperating mutations." J Clin Oncol 22(4):624-633. PubMed ID: 14726504
  • Human Gene Mutation Database (Bio-base).
  • Klein R.D. and Marcucci G. (2010) "Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA." GeneReviews. PubMed ID: 20963938
  • Leroy, H. et al. (2005). "CEBPA point mutations in hematological malignancies." Leukemia 19(3):329-334. PubMed ID: 15674366
  • Pabst T. et al. (2001). "Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia." Nat Genet 27(3):263-270.  PubMed ID: 11242107
  • Preudhomme, C. et al. (2002). "Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA)." Blood 100(8):2717-2723.  PubMed ID: 12351377
  • Radomska H.S. et al. (1998). "CCAAT/enhancer binding protein alpha is a regulatory switch sufficient for induction of granulocytic development from bipotential myeloid progenitors." Mol Cell Biol (7):4301-4314. PubMed ID: 9632814
  • Renneville, A. et al. (2009). "Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation." Leukemia 23(4):804-806. PubMed ID: 18946494
  • Scott L.M. et al. (1992). "A novel temporal expression pattern of three C/EBP family members in differentiating myelomonocytic cells." Blood 80(7):1725-1735. PubMed ID: 1391942
  • Smith, M.L. et al. (2004). "Mutation of CEBPA in familial acute myeloid leukemia." N Engl J Med 351(23):2403-2407. PubMed ID: 15575056


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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