NPM1 Mutation Analysis (Exon 12 Insertion) Test: Booking, Price, and Results
About NPM1 Mutation Analysis (Exon 12 Insertion) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | NPM1 Exon 12 Mutation Test, Nucleophosmin Gene Mutation Analysis Test, NPM1c Mutation Test, NPM1 Mutation Detection Test |
| Sample Type | Bone marrow aspirate or peripheral blood |
| Fasting Required | No fasting required |
| Report Time | 12 days |
| Recommended For | Adults and children with suspected or confirmed acute myeloid leukaemia (AML), particularly those with a normal karyotype |
| Price | Starting at ₹6,000 |
What Is an NPM1 Mutation Analysis (Exon 12 Insertion) Test?
The NPM1 Mutation Analysis (Exon 12 Insertion) test detects insertion mutations in exon 12 of the nucleophosmin (NPM1) gene. NPM1 is a gene that produces a protein normally found in the cell nucleus, where it helps regulate cell growth and division.
This test is most commonly ordered for patients with suspected or confirmed acute myeloid leukemia (AML). It uses either a bone marrow or peripheral blood sample, analysed by Sanger sequencing. This test is also known as the NPM1 Exon 12 Mutation test and the Nucleophosmin Gene Mutation Analysis test.
What Does an NPM1 Mutation Analysis (Exon 12 Insertion) Test Measure?
This test analyses the NPM1 gene for specific insertion mutations in exon 12. These are small changes in the gene sequence that alter normal cell behaviour. The table below outlines what the test looks for.
| Component | What It Detects |
|---|---|
| NPM1 Exon 12 Insertion Mutations | Presence or absence of insertion mutations (typically 4-base pair insertions) in exon 12 of the NPM1 gene |
| Mutation Type | Identifies the specific mutation variant (e.g., Type A, B, or D). Type A accounts for approximately 75 to 80% of all NPM1 mutations in AML |
| Qualitative Result | Reports whether the mutation is detected or not detected in the sample |
Why Is an NPM1 Mutation Analysis (Exon 12 Insertion) Test Done?
This test is prescribed when a doctor suspects AML or needs to classify and monitor the disease. It provides important information for diagnosis, risk assessment, and tracking treatment response.
Common Symptoms That May Require This Test
A doctor may order the NPM1 Mutation Analysis (Exon 12 Insertion) test if a patient presents with any of the following symptoms:
- Recurrent or persistent infections
- Unusual tiredness or fatigue linked to anemia (a low red blood cell count)
- Easy bruising or excessive bleeding
- Bone pain or generalised body aches
- Shortness of breath or chest tightness
- Headaches without a clear cause
Conditions This Test Can Help Detect
The following conditions are associated with NPM1 exon 12 mutations:
- NPM1-mutated AML, which represents 30 to 35% of all adult AML cases and is recognised as a distinct entity in the 2022 World Health Organisation classification of myeloid neoplasms
- AML with a normal karyotype (normal chromosomes), where NPM1 mutations are found in 50 to 60% of cases
- Molecular subtypes of AML that require specific risk stratification before treatment decisions are made
NPM1 Mutation Analysis (Exon 12 Insertion) Test for Chronic Disease Monitoring
Once an NPM1 mutation is identified at diagnosis, the same test can be repeated at key treatment milestones to check whether leukemia cells are still present at very low levels. This is known as measurable residual disease (MRD) monitoring.
Rising MRD levels can predict relapse weeks or months in advance, giving doctors the opportunity to intervene early. Testing is typically repeated after induction therapy, during consolidation, and during follow-up, in line with current oncology guidelines.
How to Prepare and What to Expect
Preparation for this test is straightforward, though there are a few important steps to follow before sample collection.
Do You Need to Fast?
No fasting is required before the NPM1 Mutation Analysis (Exon 12 Insertion) test procedure. You may eat and drink as normal on the day of collection.
Practical Tips Before Your Test
The following steps will help ensure a smooth sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and any relevant medical records, as this is required for the test.
- Inform your doctor or phlebotomist of all medications you are currently taking, particularly chemotherapy or immunosuppressive drugs.
- Ensure your sample is collected and dispatched to the laboratory promptly, as specimens must reach the lab within 48 hours of collection.
- Confirm proper labelling of your sample with your full name, date, and time of collection before it is sent.
Step-by-Step Procedure
The collection process differs depending on whether a bone marrow or peripheral blood sample is taken.
Bone Marrow Collection:
- A trained hematologist will explain the procedure and position you appropriately, usually lying on your side or stomach.
- The skin over the hip bone (posterior iliac crest) is cleaned and a local anesthetic is applied to numb the area.
- A specialised needle is inserted into the bone to aspirate (draw out) approximately 3 ml of bone marrow.
- The sample is collected in a sodium heparin (green-top) tube and labelled with your details.
- The sample is stored under refrigeration (2 to 8 degrees Celsius) and dispatched to the laboratory within 48 hours.
- The laboratory uses Sanger sequencing to analyse the sample and prepares an interpretive report.
Peripheral Blood Collection:
- A phlebotomist cleans a vein in your arm and draws approximately 3 ml of blood using a standard needle.
- The blood is collected in an EDTA (lavender-top) tube and labelled with your details.
- The sample is refrigerated and sent to the laboratory within 48 hours of collection.
- Sanger sequencing is used to detect NPM1 exon 12 insertion mutations in the DNA extracted from your blood.
Factors That Can Affect Accuracy
Several factors may influence the reliability of your test result:
- Low number of leukemia (blast) cells in the sample, which can reduce the test's ability to detect mutations.
- Delayed dispatch or improper storage of the sample after collection.
- Prior chemotherapy, which may reduce the proportion of mutation-bearing cells in the sample.
- Sample quality or insufficient volume collected.
- Inadequate clinical history provided at the time of testing.
Understanding Your NPM1 Mutation Analysis (Exon 12 Insertion) Test Results
Your result will be reported as either detected or not detected. A qualified hematologist or oncologist should always review your result alongside other laboratory findings and your full medical history.
| Parameter | Result | Interpretation |
|---|---|---|
| NPM1 Exon 12 Mutation | Negative / Not Detected | No insertion mutation identified in the sample. Does not rule out AML but indicates this specific mutation is absent. |
| NPM1 Exon 12 Mutation | Positive / Detected | An insertion mutation is present. The specific type (e.g., Type A, B, or D) will be stated in the report. |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
A positive result, combined with other clinical findings, supports a diagnosis of NPM1-mutated AML. A negative result does not completely rule out such a disorder, as other mutations can also cause these conditions.
Results During Special Conditions
- In patients aged above 65 years, the favourable prognosis usually associated with NPM1 mutations may be less pronounced, as other adverse mutations often co-occur.
- If a FLT3-ITD mutation is also present alongside the NPM1 mutation, the outlook is generally less favourable than when the NPM1 mutation appears alone.
- Prior chemotherapy may reduce the proportion of detectable mutation-bearing cells, potentially affecting result sensitivity.
Post-Testing Guidance and Care
This test detects a gene mutation rather than a measurable biological value, so there are no lifestyle changes that directly affect the mutation itself. The following general tips support overall wellbeing during monitoring:
- Attend all scheduled follow-up appointments with your hematologist or oncologist to track your disease status over time.
- Maintain balanced nutrition and stay hydrated to support your body during treatment.
- Take steps to avoid infections, as your immune system may be compromised during treatment.
Lupin Diagnostics NPM1 Mutation Analysis (Exon 12 Insertion) Test Price
The NPM1 Mutation Analysis (Exon 12 Insertion) test cost at Lupin Diagnostics starts at ₹6,000. This test requires a visit to a Lupin Diagnostics centre for sample submission and test processing. Testing is performed on a bone marrow aspirate or peripheral blood sample. Home collection is not available for this test. The table below shows indicative prices across cities:
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 6000 |
| CHENNAI | 6000 |
| HYDERABAD | 6000 |
| KOLKATA | 6000 |
| NAVI MUMBAI | 6000 |
| PUNE | 6000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre or follow the instructions provided for submitting a peripheral blood sample or bone marrow aspirate, as applicable.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The NPM1 gene produces a protein that helps control normal cell growth. Insertion mutations in exon 12 of this gene cause abnormal cell behaviour linked to AML. Identifying this mutation helps doctors classify the type of leukemia, assess the likely prognosis, and plan the most appropriate treatment.
A positive NPM1 Mutation Analysis (Exon 12 Insertion) test result, when combined with other clinical and laboratory findings, supports a diagnosis of NPM1-mutated AML. However, this test alone does not confirm a cancer diagnosis. Your doctor will consider all available information before making a clinical decision.
When an NPM1 mutation is detected without a co-occurring FLT3-ITD mutation and with a normal karyotype, it is generally associated with a more favourable prognosis. Patients with this pattern tend to respond better to standard chemotherapy and have higher rates of complete remission.
Repeated testing is used to monitor measurable residual disease (MRD) after treatment. Patients who achieve a negative result after therapy have a significantly lower risk of relapse compared to those who remain positive. Serial testing at defined treatment milestones helps your oncologist assess how well treatment is working.
Yes, peripheral blood collected in an EDTA tube can be used for this test. However, bone marrow is often preferred at diagnosis because it typically contains a higher proportion of leukaemia cells, which can improve detection sensitivity. Your doctor will advise on the most appropriate sample type for your situation.
The report for the NPM1 Mutation Analysis (Exon 12 Insertion) test is delivered within 12 days. This turnaround time reflects the specialist nature of the Sanger sequencing method used for analysis.
No. This test requires bone marrow aspiration or supervised blood collection, both of which must be performed at a Lupin Diagnostics centre by trained medical professionals. Home collection is not available for this test.
NPM1 Mutation Analysis (Exon 12 Insertion) Test: Booking, Price, and Results
