FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test: Booking, Price, and Results
About FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | FKHR Gene Rearrangement FISH, Alveolar Rhabdomyosarcoma FISH, 13q14 Gene Rearrangement Test, FOXO1 FISH, FKHR Break-Apart FISH |
| Sample Type | Formalin-fixed, paraffin-embedded (FFPE) tumour tissue block |
| Fasting Required | No fasting required |
| Report Time | 8 days |
| Recommended For | Children, adolescents, and young adults with suspected rhabdomyosarcoma; males and females |
| Price | Starting at ₹8,400 |
What is a FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test?
The FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic test is a specialised molecular test performed on tumour tissue. It uses fluorescence in situ hybridisation (FISH), a technique that attaches fluorescent labels to specific DNA sequences so they can be viewed under a microscope, to detect whether the FOXO1 gene (also known as the FKHR gene) has undergone a structural rearrangement.
This test is also referred to as the FKHR Gene Rearrangement FISH test or the 13q14 Gene Rearrangement test. Doctors order it when rhabdomyosarcoma, a rare soft tissue cancer, is suspected, and they need to identify the specific subtype.
What Does a FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test Measure?
This test analyses the FOXO1 gene on chromosome 13 to determine whether a structural rearrangement is present. The following findings are assessed:
| What Is Detected | Description |
|---|---|
| FOXO1 gene rearrangement | Whether the FOXO1 (FKHR) gene has split apart and fused with a partner gene on another chromosome |
| PAX3-FOXO1 fusion | Rearrangement resulting from a translocation between chromosomes 2 and 13; found in approximately 75 to 80% of alveolar rhabdomyosarcoma cases |
| PAX7-FOXO1 fusion | Rearrangement resulting from a translocation between chromosomes 1 and 13; found in approximately 10 to 15% of alveolar rhabdomyosarcoma cases |
Identifying the specific fusion type helps doctors confirm the cancer subtype and understand how it may behave.
Why Is a FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test Done?
Doctors request this test when a patient has symptoms or imaging findings suggestive of rhabdomyosarcoma. It plays a key role in confirming the alveolar subtype and distinguishing it from other forms of the disease.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to investigate rhabdomyosarcoma and request this test:
- A lump or swelling on the arm, leg, or torso that gradually increases in size and does not resolve
- Nasal blockage, persistent nasal discharge, or recurrent sinusitis when the tumour is in the head or neck
- Nosebleeds (epistaxis) without a clear cause
- A bulging eye (proptosis), double vision (diplopia), or misaligned eyes (strabismus)
- Fluid behind the eardrum (serous otitis media) or reduced hearing
- Difficulty swallowing (dysphagia)
- Swollen lymph nodes in the neck (cervical lymphadenopathy)
Conditions This Test Can Help Detect
A doctor may use this test to investigate or confirm the following:
- Alveolar rhabdomyosarcoma (ARMS), a specific and aggressive subtype of soft tissue cancer
- Differentiation between rhabdomyosarcoma subtypes, including embryonal, alveolar, and pleomorphic forms, based on the presence or absence of the FOXO1 gene fusion
- Cases where routine staining and imaging are inconclusive and additional molecular confirmation is needed alongside immunohistochemistry and RT-PCR testing
How to Prepare and What to Expect
The sample for this test is tumour tissue, not a routine blood or urine specimen. The steps below explain what to expect from the biopsy to the result.
Do You Need to Fast?
No fasting is required for this test. Dietary restrictions do not apply because the sample is tumour tissue, not blood or urine.
Practical Tips Before Your Test
The following steps help ensure the test can be completed without delays:
- Bring a detailed clinical history, including your symptoms, previous test results, and any prior biopsy or surgical reports, as this information is required for the test
- Ensure the tumour tissue block is fixed in standard formalin; blocks prepared using other fixatives (such as Prefer or Bouin's solution) may not yield reliable results
- Inform your doctor about any previous biopsies or surgical procedures on the affected area
- Bone specimens that have had calcium removed (decalcified bone samples) can be submitted, but the success rate is approximately 50%
Step-by-Step Procedure
Here is a brief overview of how this test is carried out:
- A clinician collects a tissue sample from the suspected tumour through a needle biopsy, an endoscopic procedure, or surgical removal.
- The tissue is preserved in formalin and embedded in paraffin wax to form an FFPE block, which is then sent to the laboratory.
- A pathologist examines the tissue under a microscope and marks the area containing the representative tumour cells for FISH analysis.
- The tissue is cut into thin sections, mounted on glass slides, and treated with specially designed FOXO1 dual-colour break-apart probes.
- The probes attach (hybridise) to the target DNA sequences and light up in distinct colours when viewed under a fluorescence microscope, revealing whether the gene has split apart.
- A specialist pathologist reviews the fluorescence patterns, counts the signals, and prepares a written report.
Factors That Can Affect Accuracy
The following factors may influence how reliably the test performs:
- The time between surgical removal of the tissue and placement into fixative solution
- The type and duration of fixation; non-formalin fixatives reduce the chance of a successful result
- Post-fixation storage conditions of the paraffin block
- A low proportion of tumour cells in the submitted sample, which can make the result uninformative
- Decalcification of bone specimens, which reduces the success rate of the FISH assay
Understanding Your FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test Results
Results are reported as either negative (no rearrangement detected) or positive (rearrangement present). A specialist pathologist interprets the fluorescence signal patterns to reach this conclusion.
| Result | Interpretation |
|---|---|
| Negative (no split signals) | No FOXO1 gene rearrangement detected in the analysed cells |
| Positive (split or separated signals) | FOXO1 gene rearrangement is present, consistent with a subset of alveolar rhabdomyosarcoma |
A positive result indicates that the FOXO1 gene has rearranged and likely fused with a partner gene such as PAX3 or PAX7. A negative result suggests no rearrangement, but it does not entirely rule out alveolar rhabdomyosarcoma, as approximately 10% of cases are fusion-negative.
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
This test detects a rare cancer; there are no established preventive measures for childhood soft tissue cancers. General guidance includes:
- Seek prompt medical evaluation for any unexplained lump, swelling, or persistent symptoms, as early assessment can make a difference
- Families with a history of certain genetic syndromes associated with childhood cancers may consider genetic counselling
- Follow your oncology team's guidance for all follow-up investigations and treatment decisions
Lupin Diagnostics FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test Price
The FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test is priced starting at ₹8,400 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 8400 |
| CHENNAI | 8400 |
| HYDERABAD | 8400 |
| KOLKATA | 8400 |
| NAVI MUMBAI | 8400 |
| PUNE | 8400 |
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 at your scheduled time to submit the FFPE tissue block.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The Alveolar Rhabdomyosarcoma FISH test detects whether the FOXO1 gene (also called the FKHR gene) has rearranged and fused with a partner gene such as PAX3 or PAX7. This information helps doctors confirm the alveolar subtype of rhabdomyosarcoma and distinguish it from other subtypes of the same cancer.
This test is recommended for children, adolescents, and young adults in whom rhabdomyosarcoma is suspected. It is typically ordered after a biopsy when standard tissue staining results are inconclusive or when the treating doctor needs molecular confirmation of the cancer subtype.
A doctor collects the tissue sample via biopsy, which may involve a needle, an endoscope, or surgery, depending on the tumour's location. Tissue that was removed during an earlier surgical procedure can also be submitted if it has been properly preserved as an FFPE block.
A positive result on the 13q14 gene rearrangement test indicates that the FOXO1 gene has rearranged and is consistent with a subset of alveolar rhabdomyosarcoma. The clinical significance of this finding is always assessed in the context of the patient's full clinical picture, imaging, and histopathological findings. A positive result alone does not confirm a diagnosis.
No. A negative result means no FOXO1 gene rearrangement was detected, but it does not exclude alveolar rhabdomyosarcoma. Around 10% of alveolar rhabdomyosarcoma cases do not carry this fusion. The test is used alongside other diagnostic tools, not in isolation.
Reports for this test are available in approximately 8 days. The test requires careful tissue processing and expert review by a specialist pathologist, which accounts for the longer turnaround time compared to routine blood tests.
Yes. Within alveolar rhabdomyosarcoma, the fusion type carries prognostic significance. Patients with metastatic disease and the PAX7-FOXO1 fusion have an estimated 4-year overall survival rate of 75%, while those with the PAX3-FOXO1 fusion have an estimated 4-year overall survival rate of 8%. Your oncologist will discuss what these findings mean for your specific situation.
FOXO1 Break Apart FISH Alveolar Rhabdomyosarcoma Diagnostic Test: Booking, Price, and Results
