NPM1 Gene NPM1, selective sequencing of exon 11 NGS Genetic Test
Short Name: NPM1 Exon 11 NGS
Also known as: NPM1 Mutation Analysis, NPM1 Exon 11 Sequencing, NPM1 Gene Mutation Test
NPM1 Gene NPM1, selective sequencing of exon 11 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 Reports are delivered within 3 to 4 weeks after sample collection.. 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 test is to detect mutations in exon 11 of the NPM1 gene, which are frequently found in acute myeloid leukemia (AML). Identification of these mutations aids in diagnosis, prognosis, and monitoring of minimal residual disease. It also helps in risk stratification and selection of targeted therapy.
- Test Code
- 6007
- CPT Code
- 81479
- ICD Code
- C92.00
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before the test to discuss family history and implications.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be placed on the card.
Report Delivery
No specific aftercare required. You can resume normal activities immediately.
Timeline: Reports are delivered within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in exon 11 of the NPM1 gene, which are frequently found in acute myeloid leukemia (AML). Identification of these mutations aids in diagnosis, prognosis, and monitoring of minimal residual disease. It also helps in risk stratification and selection of targeted therapy.
How to Prepare
- Use EDTA vacutainer for blood collection
- For FTA card, ensure the card is properly labeled and dried
- Transport samples at ambient temperature
- Avoid hemolysis
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NPM1 mutations are among the most common genetic alterations in acute myeloid leukemia (AML), occurring in about 30% of adult cases. Testing for NPM1 exon 11 mutations is crucial for risk stratification and treatment planning. Early detection can guide targeted therapy and improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Sample received after prolonged transit time without proper storage
- Insufficient sample volume
Understanding Your Results
Negative
No NPM1 exon 11 mutation found. Consider other genetic markers for risk stratification.
Positive
Indicates NPM1-mutated AML, generally associated with favorable prognosis in the absence of FLT3-ITD. Useful for MRD monitoring.
Uncertain
Further investigation may be needed; consult with genetic counselor or oncologist.
Consult your oncologist or hematologist if you have been diagnosed with AML or have symptoms suggestive of a hematologic disorder. Also, if you have a family history of leukemia or related cancers, discuss the need for genetic testing.
Limitations
- ⚠This test only covers exon 11 of the NPM1 gene; mutations in other exons are not detected
- ⚠NGS may not detect large deletions or rearrangements
- ⚠Results should be interpreted in conjunction with clinical and pathological findings
- ⚠Not a screening test for hereditary cancer syndromes
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Clonal hematopoiesis of indeterminate potential (CHIP) may cause false positives in some cases
- ●Low tumor burden may lead to false negatives
- ●Sample degradation due to improper storage or transport
- ●Contamination with non-leukemic cells
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Frequently Asked Questions
What is the NPM1 gene?
Why is NPM1 gene testing important?
What are the symptoms of NPM1 gene mutations?
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What is the cost of the NPM1 gene test at DNA Labs India?
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What does a positive NPM1 mutation result mean?
Can this test be used for hereditary cancer risk assessment?
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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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