Genetic sequencing of CEBPA (CCAAT/enhancer-binding protein alpha) for mutation analysis
This test checks for specific changes (mutations) in the CEBPA gene, which plays a role in blood cell development. These mutations are sometimes linked to certain blood disorders.
["This test helps diagnose or monitor blood cancers like acute myeloid leukemia (AML)."]
Key facts at a glance
- LOINC
- 75032-3
- Short code
- CEBPA
- Synonyms
- CEBPA gene Full Mut Anl Mar Seq
- Category
- chemistry
- Sample
- serum
- Container
- EDTA (lavender-top) tube or ACD (yellow-top) tube for bone marrow aspirate
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–99 years
- Method
- sequencing
- CPT
- 81218
- SNOMED
- 449371000124105
- Specimen volume
- 2-5 mL of bone marrow aspirate
- Stability
- Ambient: 24 hours; Refrigerated (2-8°C): 7 days; Frozen (-20°C or below): 30 days. DNA extracted from nucleated cells should be stored at -20°C or below.
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 120–336 hours
- Order
- routine
Why is this test done?
Your doctor may order this test if you have symptoms of blood disorders, such as fatigue, unexplained weight loss, or frequent infections. It may also be used to confirm a diagnosis of acute myeloid leukemia (AML) or to guide treatment decisions based on genetic information.
What does the test involve?
A blood sample is taken from you. The genetic material (DNA) is then analyzed to look for specific mutations in the CEBPA gene. This process involves advanced laboratory techniques to detect changes in the DNA sequence that may not be visible through standard blood tests.
What does the result mean?
The result tells whether the CEBPA gene has mutations that are associated with blood disorders. The presence of these mutations can help determine the type of blood cancer you have and may influence treatment options, such as targeted therapies.
How is this test different from standard blood tests?
Unlike standard blood tests that measure levels of proteins or cells, this test specifically looks for genetic mutations in the CEBPA gene. It requires specialized laboratory techniques to analyze DNA, making it more detailed and precise for diagnosing certain blood cancers.
Reference range
No pathogenic mutations detected in the CEBPA gene (wild-type sequence)N/A
No special preparation required. Bone marrow aspiration is performed by a qualified healthcare provider. Inform the physician of any bleeding disorders or anticoagulant use prior to the procedure.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
CEBPA mutations are found in about 10-20% of cases of acute myeloid leukemia (AML). Identifying these mutations can help doctors classify the type of leukemia, guide treatment decisions, and sometimes predict how the disease will progress. This genetic information can also help determine if certain targeted therapies might be more effective.
Short name
CEBPA Mutation Analysis
Frequently asked questions
What are the possible reasons for getting this test?
Will this test affect my treatment options?
How long does it take to get the results?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy