CEBPA Gene Leukemia, myeloid acute form, due to CEBPA germline mutation NGS Genetic Test
Short Name: CEBPA Germline NGS
Also known as: CEBPA Gene Mutation Analysis, CEBPA Germline Mutation NGS, AML Predisposition Genetic Test
CEBPA Gene Leukemia, myeloid acute form, due to CEBPA germline mutation NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect germline mutations in the CEBPA gene that predispose individuals to acute myeloid leukemia. It is used for diagnostic confirmation in patients with AML who have a family history suggestive of inherited risk, and for predictive testing in asymptomatic family members. Identifying a CEBPA germline mutation enables personalized surveillance, early intervention, and informed reproductive choices.
- Test Code
- 5998
- CPT Code
- 81445
- ICD Code
- C92.50
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. If using FTA card, a simple fingerstick is performed.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect germline mutations in the CEBPA gene that predispose individuals to acute myeloid leukemia. It is used for diagnostic confirmation in patients with AML who have a family history suggestive of inherited risk, and for predictive testing in asymptomatic family members. Identifying a CEBPA germline mutation enables personalized surveillance, early intervention, and informed reproductive choices.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark.
- For FTA card: Apply one drop of blood to each circle, air dry for 30 minutes.
- Label the sample with patient name and date of birth.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CEBPA germline mutations are rare but important in familial AML. Genetic testing helps identify at-risk family members and guides surveillance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper packaging
Understanding Your Results
Pathogenic variant detected
Confirms CEBPA germline mutation. Increased risk of AML. Recommend surveillance and family testing.
Variant of uncertain significance (VUS)
A genetic change was found, but its clinical significance is unknown. Further testing and family studies may be needed.
No pathogenic variant detected
No CEBPA germline mutation found. Other genetic or environmental factors may be involved.
Consult a hematologist-oncologist or medical geneticist if you have a personal or family history of AML, or if you have been diagnosed with AML and have a family history suggestive of inherited risk.
Limitations
- ⚠This test only analyzes the CEBPA gene; other genetic causes of AML are not evaluated.
- ⚠Variants of uncertain significance may be reported; interpretation may require further testing.
- ⚠Somatic mutations in CEBPA (not germline) are not detected by this test.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic testing results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample with non-blood cells
- ●Insufficient DNA quantity or quality
- ●Recent bone marrow transplant may affect germline results
Compare With Similar Tests
| Test | CEBPA Gene Leukemia, myeloid acute form, due to CEBPA germline mutation NGS Genetic Test | CEBPA Somatic Mutation Test | RUNX1 Germline Mutation Test | Karyotyping for AML |
|---|---|---|---|---|
| Comparison | CEBPA Gene Leukemia, myeloid acute form, due to CEBPA germline mutation NGS Genetic Test |
Frequently Asked Questions
What is the cost of the CEBPA gene leukemia NGS genetic test?
What is the CEBPA gene?
What is a germline mutation?
How is the test performed?
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How long does it take to get results?
Is home sample collection available?
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Can this test be used for family members?
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