NPM1 Mutation Analysis (Exon 12 Insertion) Test
Short Name: NPM1 Mutation Test
Also known as: NPM1 Gene Mutation Analysis, NPM1 Exon 12 Insertion Test
NPM1 Mutation Analysis (Exon 12 Insertion) Test test available at DNA Labs India for ₹6,000. Uses Sanger Sequencing on Bone Marrow/Peripheral Blood samples. Results in 7-8 days. 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
To detect NPM1 gene mutations for AML diagnosis and prognosis, aiding in treatment decisions and risk assessment.
- Test Code
- 3116
- Price
- ₹6,000
- Sample Type
- Bone Marrow/Peripheral Blood
- Result Time
- 7-8 days
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation required. A doctor's prescription may be needed, except for surgery, pregnancy, or travel abroad cases.
Method: Bone Marrow Aspiration or Venipuncture
Laboratory Analysis
Sample collected by a trained phlebotomist or hematologist using sterile techniques.
Report Delivery
Apply pressure to the collection site. Sample is transported to the laboratory for analysis.
Timeline: 7-8 days
Patient Instructions
About This Test
Who Should Get This Test
To detect NPM1 gene mutations for AML diagnosis and prognosis, aiding in treatment decisions and risk assessment.
How to Prepare
- Ensure proper patient identification and labeling
- Use EDTA vacutainer for blood samples
- Transport samples at room temperature
- For bone marrow, follow aseptic procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NPM1 mutation analysis is crucial for risk stratification in AML patients, helping tailor treatment plans for better outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Mutation Detected
Associated with a better prognosis in AML; may influence treatment choices like chemotherapy response.
No Mutation Detected
May indicate other genetic abnormalities; further testing recommended for comprehensive diagnosis.
If symptoms of AML persist, if results are abnormal, or for personalized treatment advice, consult a hematologist or oncologist.
Limitations
- ⚠May not detect all NPM1 gene variants
- ⚠Requires high-quality DNA for accurate results
- ⚠Limited to exon 12 insertions; other mutations not covered
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Bone marrow biopsy may cause discomfort or rare complications
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample handling
Compare With Similar Tests
| Test | NPM1 Mutation Analysis (Exon 12 Insertion) | FLT3 Mutation Analysis | CEBPA Mutation Analysis |
|---|---|---|---|
| Comparison | NPM1 Mutation Analysis (Exon 12 Insertion) | Both are genetic tests for AML, but NPM1 focuses on exon 12 insertions, while FLT3 detects internal tandem duplications. | CEBPA tests for different mutations in AML; NPM1 is more common and has distinct prognostic value. |
Frequently Asked Questions
What is NPM1 Mutation Analysis?
Why is NPM1 Mutation Analysis performed?
What sample is required for this test?
How is the sample collected?
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What does a positive NPM1 mutation result mean?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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