AML1/ETO t (8 21) (AML M2) FISH Test
About AML1/ETO t (8 21) (AML M2) FISH Test
| Field | Value |
|---|---|
| Also Known As | RUNX1-RUNX1T1 FISH Test, t(8;21) FISH Test, AML1-ETO Translocation Test, ETO/AML1 FISH, Core Binding Factor AML FISH |
| Sample Type | Bone marrow aspirate (preferred) or peripheral blood in sodium heparin tube |
| Fasting Required | No fasting required |
| Report Time | 5 to 6 working days |
| Recommended For | Adults and children with suspected or confirmed acute myeloid leukaemia (AML), particularly FAB subtype M2 |
| Price | Starting at ₹4,500 |
What Is an AML1/ETO t (8 21) (AML M2) FISH Test?
The AML1/ETO FISH test is a specialised genetic test that detects a specific chromosomal change linked to a form of blood cancer called acute myeloid leukaemia (AML). It uses fluorescent dyes (probes) to identify whether two chromosomes, chromosome 8 and chromosome 21, have swapped genetic material — a change known as the t(8;21) translocation.
Doctors also refer to this test as the RUNX1-RUNX1T1 fusion test or AML M2 FISH test. The sample used is typically a bone marrow aspirate, though peripheral blood may be used in some cases.
What Does an AML1/ETO t (8 21) (AML M2) FISH Test Measure?
This test looks for a very specific genetic rearrangement between two chromosomes. Here is what each component of the analysis involves:
| Component | What It Looks For |
|---|---|
| RUNX1-RUNX1T1 (AML1/ETO) translocation | Swap of genetic material between chromosome 21 (region 21q22.1) and chromosome 8 (region 8q21.3) |
| Fusion gene presence | Abnormal joining of the RUNX1 gene (chromosome 21) with the RUNX1T1 gene (chromosome 8) |
| Signal pattern | Orange and green fluorescent signals viewed under a microscope; fusion signals indicate the translocation is present |
In a normal cell, the laboratory expects to see two separate orange signals and two separate green signals. When the AML1/ETO translocation is present, these signals appear merged or fused.
Why Is an AML1/ETO t (8 21) (AML M2) FISH Test Done?
A doctor may request this test when a patient shows signs that could suggest a blood disorder or when AML is already suspected based on earlier test findings.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to investigate for AML using the t(8;21) FISH test:
- Persistent fatigue that feels similar to a cold or flu that will not resolve
- Easy bruising or unexplained bleeding
- Frequent infections that recur or take longer than usual to clear
- Unexplained weight loss
- Shortness of breath without an obvious cause
- Swollen lymph nodes (small glands found in the neck, armpits, or groin)
Conditions This Test Can Help Detect
The test helps identify or confirm specific conditions. These include:
- AML with RUNX1-RUNX1T1 fusion caused by the t(8;21) translocation, a distinct disease category under the WHO classification of blood cancers
- Core binding factor acute myeloid leukaemia (CBF-AML), a form of blood cancer in which the bone marrow produces large numbers of abnormal, immature white blood cells
- Minimal residual disease (MRD): small amounts of remaining cancer cells after treatment that may signal risk of relapse
AML1/ETO t (8 21) (AML M2) FISH Test for Chronic Disease Monitoring
Once a patient has been treated for AML with the RUNX1-RUNX1T1 translocation, this test plays an important role in long-term monitoring. It can detect tiny amounts of remaining cancer cells — a process called MRD monitoring — to evaluate how well treatment has worked.
In adults, monitoring is recommended in peripheral blood after two chemotherapy cycles, in bone marrow after consolidation therapy, and in peripheral blood every four to six weeks for up to two years. This helps doctors identify any early signs of relapse.
How to Prepare and What to Expect
The preparation for this test is straightforward, though the sample collection process differs from a standard blood draw.
Do You Need to Fast?
No fasting is required before this test. You may eat and drink as normal on the day of your appointment.
Practical Tips Before Your Test
A few steps will help ensure the sample is suitable for accurate analysis:
- Inform your doctor and the laboratory of all current medications and any treatments you are receiving
- Provide a full clinical history, including your suspected or confirmed diagnosis
- If bone marrow is being collected, the sample must be taken in a sodium heparin tube (the syringe is rinsed with preservative-free sodium heparin beforehand)
- Keep the sample at room temperature after collection; do not refrigerate or freeze it
Step-by-Step Procedure
Here is what typically happens from sample collection through to reporting:
- Your doctor collects either a bone marrow aspirate (via a specialised procedure in a hospital or clinic) or a peripheral blood sample. If your doctor has prescribed a peripheral blood sample, this can be collected via a convenient home collection visit.
- The sample is transported to the laboratory at room temperature and must arrive within 6-12 hours of collection.
- Laboratory staff prepare the cells and apply fluorescent probes that are designed to bind specifically to the RUNX1 and RUNX1T1 gene regions.
- A dual-colour, dual-fusion FISH analysis is carried out on non-dividing (interphase) cells; 200 cells are analysed for diagnostic purposes, and 500 cells for MRD monitoring.
- A qualified cytogeneticist or pathologist examines the signal patterns under a fluorescence microscope and interprets the findings.
- A written report is prepared and sent to your doctor, typically within 5 to 6 working days.
Factors That Can Affect Accuracy
Certain conditions may affect the reliability of results. These include:
- Samples that have clotted or been frozen before analysis
- Use of anticoagulants other than sodium heparin
- Samples that arrive at the laboratory more than 24 hours after collection
- An insufficient number of cells in the sample
- Complex or variant chromosomal rearrangements that may require additional confirmatory testing
Understanding Your AML1/ETO t (8 21) (AML M2) FISH Test Results
Results from this test must always be reviewed by a qualified doctor who can consider your full clinical picture. The table below shows the general reference ranges used to interpret findings.
| Parameter | Normal (Negative) Result | Positive Finding |
|---|---|---|
| RUNX1-RUNX1T1 fusion | Not detected | Fusion signals observed in cells |
| Fusion signal percentage | Below laboratory cut-off (typically less than 1 to 3% of cells) | Exceeds the established cut-off threshold |
A negative result means no t(8;21) translocation was found. However, a negative result does not rule out all forms of blood cancer. A positive result — where the AML1/ETO fusion is detected — indicates the presence of AML with the t(8;21) translocation. Importantly, detection of this fusion via standard cytogenetic testing and clinical bone marrow pathology can confirm a diagnosis of AML, even if the number of abnormal blast cells in the marrow is below 20%.
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.
Results During Special Conditions
Certain factors can influence how results are interpreted:
- If a coexisting KIT gene mutation is also detected, this may affect overall outcomes in patients who test positive for the t(8;21) translocation.
- The translocation may appear as the only genetic abnormality or alongside other chromosomal changes. In either case, its presence in a patient with bone marrow pathology is sufficient to confirm AML.
- Uncommon variant rearrangements involving chromosomes 8 and 21 may not be picked up by standard karyotyping alone; FISH analysis is better placed to detect these.
How to Maintain Healthy Levels
For patients being monitored after treatment, the following general steps support ongoing care:
- Keep all follow-up appointments with your haematologist or oncologist and attend every scheduled monitoring test
- Follow your prescribed treatment plan consistently and notify your doctor of any side effects
- Report any new symptoms, such as unusual bleeding, persistent tiredness, or recurring infections, to your doctor promptly
Lupin Diagnostics AML1/ETO t (8 21) (AML M2) FISH Test Price and Home Collection
The AML1/ETO FISH test price in India generally starts at ₹4,500, with home collection available through Lupin Diagnostics. The indicative city-wise pricing is as follows:
| City | Approximate Price (₹) |
|---|---|
| Mumbai | ₹4,500 |
| Bangalore | ₹4,500 |
| Chennai | ₹4,500 |
| Hyderabad | ₹4,500 |
| Pune | ₹4,500 |
| Kolkata | ₹4,500 |
| Bhopal | ₹4,500 |
| Indore | ₹4,500 |
Note: Home sample collection is strictly available for peripheral blood testing only. If your prescription requires a bone marrow aspirate sample, home collection is unavailable, and the procedure must be performed at a hospital or specialised medical centre.
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 time slot
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre
- Receive your report via email or WhatsApp within the stipulated turnaround time
Home Collection
Lupin Diagnostics offers home collection across cities, with samples collected by trained phlebotomists and processed in NABL-accredited laboratories. All reports are delivered digitally via email or WhatsApp, making it easy to share results directly with your doctor.
Frequently Asked Questions
The AML1/ETO FISH test detects a specific chromosomal change — the t(8;21) translocation — that is linked to a form of acute myeloid leukaemia. It is used to confirm a diagnosis of AML, guide treatment decisions, and monitor patients after therapy for signs of remaining or returning disease.
The preferred sample is bone marrow aspirate collected in a sodium heparin tube. In some situations, peripheral blood in a sodium heparin tube is also acceptable. Your doctor will advise on which sample type is appropriate in your case.
The turnaround time for the t(8;21) FISH test is typically 5 to 6 working days. This is because the laboratory process involves preparing cells, applying fluorescent probes, and having a specialist examine the findings carefully.
Not necessarily. Core binding factor AML, which includes the RUNX1-RUNX1T1 translocation, generally has a more favourable outlook compared to many other forms of AML. Approximately 90% of individuals with CBF-AML respond to treatment, compared with 25 to 40% for other AML types. Your doctor will discuss what the result means for your specific situation.
Yes. The AML1-ETO translocation test is used for minimal residual disease (MRD) monitoring after treatment. It can identify very small numbers of remaining cancer cells that might not be apparent through routine blood tests, helping doctors detect any early signs of relapse.
No fasting is needed. You can eat and drink normally before your appointment. However, do inform the laboratory of any medications you are taking and provide your full clinical history, as this information helps in accurate interpretation of results.
A negative result means the t(8;21) FISH test did not detect the specific translocation. However, it does not rule out other types of blood disorders. If symptoms continue, your doctor may order additional tests to investigate other possible causes.
AML1/ETO t (8 21) (AML M2) FISH Test
