CBFB-MYH11[Inv(16)] Qualitative Test: Booking, Price, and Results
About CBFB-MYH11[Inv(16)] Qualitative Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | CBFB-MYH11 Fusion Gene Test, inv(16) Qualitative PCR, CBFβ-MYH11 RT-PCR, Inversion 16 Qualitative Test |
| Sample Type | Bone marrow aspirate and peripheral blood (venous blood) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Adults and children with suspected or confirmed acute myeloid leukaemia (AML) |
| Price | Starting at ₹4,800 |
What is a CBFB-MYH11[Inv(16)] Qualitative Test?
The CBFB-MYH11[Inv(16)] qualitative test detects a specific genetic abnormality linked to a subtype of acute myeloid leukaemia (AML), a cancer of the blood and bone marrow. It identifies whether a fusion gene formed between the CBFB and MYH11 genes is present or absent. The test uses a method called Real Time PCR (polymerase chain reaction), which copies and detects genetic material from the sample. It is also known as the CBFB-MYH11 Fusion Gene Test or the Inversion 16 Qualitative Test.
What Does a CBFB-MYH11[Inv(16)] Qualitative Test Measure?
The CBFB-MYH11[Inv(16)] qualitative test procedure analyses a single genetic target. The table below explains what it looks for.
| Component | What It Detects |
|---|---|
| CBFB-MYH11 fusion gene transcript | The presence or absence of an abnormal gene fusion caused by an inversion or translocation of chromosome 16 |
When chromosome 16 undergoes an inversion (a segment flips and reattaches), the CBFB gene and the MYH11 gene fuse together abnormally. This fusion disrupts normal blood cell development and is associated with a specific subtype of AML known as AML-M4Eo, which involves an increased number of a white blood cell type called eosinophils in the bone marrow.
Why is a CBFB-MYH11[Inv(16)] Qualitative Test Done?
Doctors order this test when they suspect a specific genetic form of AML, or to monitor patients already diagnosed with it. Below are the key reasons it may be requested.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to investigate for AML with this genetic marker:
- Persistent fatigue and weakness
- Unusual paleness (pallor)
- Easy bruising or unexplained bruises on the skin
- Bleeding from gums or frequent nosebleeds
- Recurrent or prolonged infections
- Heavy menstrual bleeding
- Fever without an obvious cause
Conditions This Test Can Help Detect
This test helps identify or monitor the following conditions:
- Acute myeloid leukaemia (AML) with CBFB-MYH11 fusion, a specific AML subtype affecting blood and bone marrow
- AML-M4Eo, a myelomonocytic form of AML associated with increased bone marrow eosinophils
- Therapy-related AML, which may develop in some patients after previous cancer treatment
- Minimal residual disease (MRD), meaning small numbers of leukaemia cells remaining after treatment
CBFB-MYH11[Inv(16)] Qualitative Test for Chronic Disease Monitoring
This test plays an important role in monitoring patients with inv(16)-positive AML during and after treatment. A rise in the CBFB-MYH11 fusion transcript detected by PCR can signal an increased risk of relapse, sometimes before any clinical signs appear. Doctors typically repeat the test at scheduled intervals to assess how well treatment is working and to guide decisions about further therapy.
How to Prepare and What to Expect
No special preparation is needed before this test. The information below will help you understand what to expect on the day of collection.
Do You Need to Fast?
No, fasting is not required for the CBFB-MYH11[Inv(16)] qualitative test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Keep the following points in mind before your sample is collected:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor about all medications you are taking, especially blood thinners
- Follow any specific instructions given by your haematologist or the collecting centre
- Note that bone marrow aspiration is performed in a hospital or clinic by a trained specialist; arrange for a companion if possible
- Ensure the sample reaches the laboratory within 48 hours of collection, as the RNA in the sample is unstable and degrades quickly
Step-by-Step Procedure
Two sample types are collected for this test: peripheral blood and bone marrow. The steps for each are described below.
Peripheral Blood Collection:
- A trained phlebotomist cleans the skin over a vein in your arm.
- A small needle is used to draw approximately 3 ml of blood into a lavender-top EDTA tube (a tube containing a substance that prevents clotting).
- The tube is labelled and stored at 2 to 8 degrees Celsius for transport.
Bone Marrow Collection:
- A haematologist performs the procedure, usually in a hospital setting.
- The skin and bone over the posterior iliac crest (hip bone) are numbed with a local anaesthetic.
- A special needle is inserted to withdraw approximately 3 ml of bone marrow into a green-top sodium heparin tube.
- The sample is labelled and refrigerated immediately for transport to the laboratory.
In the laboratory, RNA is extracted from the sample and Real Time PCR is used to detect the CBFB-MYH11 fusion transcript.
Factors That Can Affect Accuracy
The following factors may affect the reliability of the test result:
- Severely haemolysed (broken red blood cells) or clotted samples
- Freezing whole blood or bone marrow samples, which damages RNA
- Delayed transport to the laboratory beyond 48 hours
- Poor RNA quality due to improper sample handling
- Rare variant fusion transcripts, which standard PCR may occasionally miss
Understanding Your CBFB-MYH11[Inv(16)] Qualitative Test Results
Results from this test indicate whether the CBFB-MYH11 fusion transcript was detected or not. Your doctor will review your result alongside your clinical history, bone marrow findings, and other tests.
| Parameter | Result | Interpretation |
|---|---|---|
| CBFB-MYH11 Fusion Transcript | Not Detected (Negative) | No fusion gene identified; inv(16)/t(16;16)-positive AML is unlikely |
| CBFB-MYH11 Fusion Transcript | Detected (Positive) | Fusion gene present; consistent with inv(16) or t(16;16) AML |
A negative result after treatment may indicate a good response to chemotherapy or complete remission. A positive result confirms the presence of this specific genetic abnormality, found in approximately 5 to 8% of all AML cases.
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
Rare variant fusion transcripts may not be detected by standard PCR screening, potentially leading to a false-negative result. In such cases, additional tests such as FISH (fluorescence in situ hybridisation) or alternative PCR methods may be recommended. RNA degradation due to improper sample handling can also affect the accuracy of your results.
How to Maintain Healthy Levels
The following general points support effective monitoring and care:
- Attend all scheduled follow-up appointments for MRD monitoring as advised by your haematologist
- Communicate any new or worsening symptoms to your healthcare team promptly
- Keep a record of your test results over time to help track trends during treatment
Lupin Diagnostics CBFB-MYH11[Inv(16)] Qualitative Test Price
The CBFB-MYH11[Inv(16)] qualitative test cost at Lupin Diagnostics starts at ₹4,800. This test requires a visit to a Lupin Diagnostics centre; home collection is not available due to the specialised nature of sample collection and handling.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 4800 |
| CHENNAI | 4800 |
| HYDERABAD | 4800 |
| KOLKATA | 4800 |
| NAVI MUMBAI | 4800 |
| PUNE | 4800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Use the steps below to book the CBFB-MYH11[Inv(16)] qualitative test online booking through Lupin Diagnostics:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The CBFB gene, located on chromosome 16q22, and the MYH11 gene, located on chromosome 16p13.1, fuse abnormally when an inversion of chromosome 16 occurs. This creates a combined (chimeric) protein that disrupts normal blood cell development. The resulting genetic abnormality is associated with a specific subtype of acute myeloid leukaemia.
Identifying the CBFB-MYH11 fusion at the time of diagnosis helps doctors make treatment decisions. AML with this genetic abnormality generally responds well to high-dose chemotherapy, making early and accurate detection important for planning therapy.
Yes. The CBFB-MYH11[Inv(16)] qualitative test can be performed on either peripheral blood or bone marrow collected in an EDTA tube. Bone marrow is generally preferred for initial diagnosis, while peripheral blood may be used for follow-up monitoring after treatment begins.
A positive result means the CBFB-MYH11 fusion gene transcript was detected in the sample. This is consistent with AML carrying the inv(16) or t(16;16) chromosomal abnormality. Your haematologist will discuss what this means for your treatment plan.
A negative result during or after treatment may indicate that the leukaemia cells are no longer detectable, suggesting a good response to chemotherapy. However, your doctor will consider other clinical findings before drawing conclusions.
The frequency of repeat testing depends on your individual treatment protocol. Your haematologist will advise on the appropriate monitoring schedule, as the test is useful for tracking minimal residual disease throughout the course of treatment.
A negative result does not rule out all types of AML. If AML is still suspected, your doctor may recommend additional tests such as FISH, karyotyping, or RNA sequencing to investigate other possible genetic abnormalities. All new AML cases should be assessed for the CBFB-MYH11 fusion to avoid missing atypical presentations.
CBFB-MYH11[Inv(16)] Qualitative Test: Booking, Price, and Results
