NPM1 Gene Mutation Test: Booking, Price, and Results
About NPM1 Gene Mutation Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | NPM1 mutation analysis, Nucleophosmin 1 gene mutation test, NPM1 MRD monitor test |
| Sample Type | Peripheral blood (EDTA tube) or bone marrow aspirate (sodium heparin tube) |
| Fasting Required | No |
| Report Time | 20 days |
| Recommended For | Adults and children with suspected or diagnosed acute myeloid leukaemia (AML); males and females |
| Price | Starting at ₹5,700 |
What is an NPM1 Gene Mutation Test?
The NPM1 gene mutation test detects changes in the NPM1 (nucleophosmin 1) gene, which is located on chromosome 5. Mutations in this gene are found in roughly 30% of acute myeloid leukaemia (AML) cases. This test is used at the time of diagnosis, for planning treatment, and to check how well treatment is working over time. It is also known as NPM1 mutation analysis or the Nucleophosmin 1 gene mutation test. Samples collected are peripheral blood or bone marrow.
What Does a NPM1 Gene Mutation Test Measure?
The NPM1 gene mutation test procedure analyses the NPM1 gene at a molecular level using Next Generation Sequencing (NGS). The test looks at two key aspects of the gene.
| Parameter | What it Tells Us |
|---|---|
| NPM1 Mutation Status (qualitative) | Whether a mutation is present or absent in exon 12 of the NPM1 gene, helping confirm AML subtype |
| NPM1 Mutant Transcript Level (quantitative) | The amount of abnormal gene transcripts present; used to track minimal residual disease (MRD — tiny amounts of remaining cancer cells) and assess relapse risk |
Three mutation types, known as A, B, and D, account for around 95% of all NPM1 mutations seen in AML. The test reports mutant copy numbers relative to a reference gene called ABL1, allowing both initial diagnosis and ongoing monitoring.
Why is a NPM1 Gene Mutation Test Done?
Doctors order this test at various stages: when AML is suspected, at diagnosis, and at regular intervals during and after treatment.
Common Symptoms That May Require This Test
A doctor may recommend this test when a patient presents with one or more of the following:
- Persistent tiredness or weakness
- Pale skin
- Breathlessness without an obvious cause
- Unexplained weight loss
- High temperature or night sweats
- Frequent or recurring infections
- Unusual bruising or bleeding
Conditions This Test Can Help Detect
The NPM1 gene mutation test can assist in identifying and managing the following:
- Acute myeloid leukaemia (AML), a blood and bone marrow cancer where abnormal blood cells grow uncontrollably; NPM1-mutated AML is now recognised as a distinct disease subtype
- Prognostic subtyping in AML: when no FLT3 gene variant is present alongside an NPM1 mutation, the outlook tends to be more favourable
- Minimal residual disease (MRD): the continued presence of NPM1 mutant transcripts after treatment is associated with a higher chance of relapse
NPM1 Gene Mutation Test for Chronic Disease Monitoring
As recommended by European LeukemiaNet (ELN) guidelines, NPM1 mutant transcript levels are monitored every three months in patients with NPM1-mutated AML. Testing is recommended in peripheral blood every four to six weeks and in bone marrow every three months for at least 24 months after treatment is completed. This allows doctors to detect early signs of relapse and adjust treatment plans promptly.
How to Prepare and What to Expect
No complex preparation is required for this test, but following a few practical steps will help ensure the sample is collected and handled correctly.
Do You Need to Fast?
No, fasting is not required before the NPM1 gene mutation test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Keep the following mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and treatment records, as this is required for the test
- Inform your doctor or the collection team about all medicines you are currently taking, including any chemotherapy drugs
- If you are using home collection for the blood sample, follow the instructions given by the phlebotomist (trained blood-drawing technician)
- Samples must reach the laboratory within 48 hours of collection, due to the fragile nature of RNA (the genetic material being tested)
Step-by-Step Procedure
This test requires two sample types: peripheral blood and bone marrow. Collection procedures for each are described below.
Peripheral Blood Collection:
- A trained phlebotomist cleans the inner arm with an antiseptic wipe.
- A small amount of blood (approximately 3 ml) is drawn from a vein into a lavender-top EDTA tube.
- The tube is labelled and stored at 2 to 8 degrees Celsius for transport to the laboratory.
Bone Marrow Collection:
- A specialist doctor cleans and numbs the skin over the hip bone using a local anaesthetic, so the area is pain-free.
- A thin needle is used to withdraw a small amount of bone marrow fluid (approximately 3 ml) into a green-top sodium heparin tube. This procedure is called a bone marrow aspirate.
- The sample is labelled and kept refrigerated during transport to the laboratory.
Both samples are processed using NGS (Next Generation Sequencing) at the laboratory.
Factors That Can Affect Accuracy
The following factors may affect the quality or reliability of results:
- Poor sample quality or incorrect sample handling
- Delay between collection and laboratory processing (samples must arrive within 48 hours)
- Failure to maintain refrigeration during transport
- Ongoing chemotherapy at the time of sample collection
- Sample contamination
Understanding Your NPM1 Gene Mutation Test Results
Results should always be reviewed with your haematologist (blood specialist) or treating oncologist, who will place them in the full context of your diagnosis and treatment history.
| Parameter | Normal / Expected Range |
|---|---|
| NPM1 Mutation Status | Not detected (Negative) |
| NPM1 Mutant Transcript Level | Below detection threshold (expressed as % normalised copy number) |
A negative result means no NPM1 mutation was found in the sample tested. A positive result at diagnosis, particularly in the absence of a FLT3 gene variant and with a normal chromosome pattern, is generally associated with a more favourable outlook. During monitoring, a detectable or rising level of mutant transcripts may indicate the disease is returning, while undetectable levels suggest a good response to treatment.
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.
How to Maintain Healthy Levels
These are general wellness tips for patients being monitored for AML:
- Attend all scheduled follow-up appointments and repeat tests as recommended by your haematologist
- Report any new symptoms, such as unusual tiredness, bruising, or frequent infections, to your doctor without delay
- Keep your healthcare team informed of any changes in your overall health between appointments
Lupin Diagnostics NPM1 Gene Mutation Test Price and Home Collection
The NPM1 gene mutation test cost at Lupin Diagnostics starts at ₹5,700. Home collection is available for the peripheral blood sample. Please note that the bone marrow aspirate must be performed at a hospital or clinic by a qualified specialist and cannot be collected at home.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 5700 |
| CHENNAI | 5700 |
| HYDERABAD | 5700 |
| KOLKATA | 5700 |
| NAVI MUMBAI | 5700 |
| PUNE | 5700 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book the NPM1 gene mutation test online:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Home sample collection may be available for peripheral blood samples through a certified phlebotomist. Bone marrow sample collection must be performed at a hospital or authorised healthcare facility by a trained specialist.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Home collection may be available across cities for peripheral blood samples used in this test. Bone marrow sample collection must be performed at a hospital or authorised healthcare facility by a trained specialist. All samples are processed in NABL-accredited laboratories staffed by experienced technologists, and digital reports are shared via email or WhatsApp once ready.
Frequently Asked Questions
The NPM1 gene mutation test is used to detect mutations in the NPM1 gene. It helps confirm a specific subtype of acute myeloid leukaemia (AML), assess prognosis, and monitor how well treatment is working over time by tracking residual disease.
This test is recommended for individuals who have been diagnosed with or are suspected of having AML. NPM1 mutations are found in around 2 to 8% of childhood AML cases and in 27 to 35% of adult AML cases, so it is relevant across age groups.
Both samples are used. Peripheral blood is collected via a standard blood draw, while bone marrow is collected through a bone marrow aspirate procedure performed by a specialist at a hospital or clinic.
The report for the NPM1 gene mutation test is delivered within 20 days from the date of sample receipt at the laboratory.
A positive result at diagnosis means an NPM1 mutation is present. When this occurs without an FLT3 gene variant, it is generally associated with a better prognosis. During ongoing monitoring, a positive or rising result may indicate that the disease is returning.
For patients with NPM1-mutated AML, European guidelines recommend testing peripheral blood every four to six weeks and bone marrow every three months for at least 24 months after treatment is completed.
Yes, the NPM1 gene mutation test online booking is available through the Lupin Diagnostics website. You can choose your city and select a preferred time slot. Home collection may be available for peripheral blood samples, while bone marrow sample collection must be performed at a hospital or authorised healthcare facility by a trained specialist.
NPM1 Gene Mutation Test: Booking, Price, and Results
