Sarcoma Extended Gene Panel Test
About Sarcoma Extended Gene Panel Test
| Field | Value |
|---|---|
| Also Known As | Sarcoma Comprehensive Gene Panel Test, Sarcoma NGS Fusion Panel Test, Sarcoma Comprehensive NGS Panel Test, Soft Tissue/Bone Tumour Gene Panel Test |
| Sample Type | FFPE Tissue Block (formalin-fixed, paraffin-embedded tumour tissue) |
| Fasting Required | No |
| Report Time | 30 Days |
| Recommended For | All ages; individuals with suspected or confirmed sarcoma requiring molecular diagnosis, treatment selection, or prognostic assessment |
| Price | Starting at ₹45,000 |
What is a Sarcoma Extended Gene Panel Test?
The Sarcoma Extended Gene Panel test is an advanced molecular test that analyses tumour tissue to detect genetic mutations and gene fusions associated with sarcoma. It uses next-generation sequencing (NGS), a technology that examines multiple genes at the same time.
Doctors order this test to support diagnosis and classification of sarcoma, assess prognosis, and guide treatment decisions. The sample required is a formalin-fixed, paraffin-embedded (FFPE) tissue block obtained through a biopsy or surgical procedure. The test is also known as the Sarcoma Comprehensive Gene Panel test and the Sarcoma NGS Fusion Panel test.
What Does a Sarcoma Extended Gene Panel Test Measure?
This test examines several types of genetic changes in tumour tissue. Each type of finding carries its own clinical significance. The following key parameters are analysed:
| Parameter | What It Detects |
|---|---|
| Gene fusions and translocations | Specific fusions such as PAX3/FOXO1 (alveolar rhabdomyosarcoma), EWSR1-FLI1 (Ewing sarcoma), and SS18-SSX1/2 (synovial sarcoma) |
| DNA somatic mutations | Changes in cancer-associated genes, including ALK, BRAF, KIT, TP53, NF1, PDGFRA, MDM2, and several others |
| Internal tandem duplications (ITDs) | Duplications within the BCOR gene (exon 15) |
| Microsatellite instability (MSI) status | Determines whether the tumour is MSI-High or microsatellite stable, which can guide immunotherapy decisions |
| Copy number variants (CNVs) | Gene amplifications and deletions, such as MDM2 amplification |
Why is a Sarcoma Extended Gene Panel Test Done?
Sarcomas are a diverse group of tumours that can be difficult to distinguish on pathology alone. This test provides molecular evidence to support or confirm a diagnosis and identify actionable genetic changes.
Common Symptoms That May Require This Test
A doctor may order this test when a patient presents with the following signs:
- A painless lump or mass in soft tissue or bone
- Pain in the affected area that gradually worsens
- Difficulty moving a limb or joint near the mass
- Unexplained bone fractures
- Unintended weight loss
- Persistent unexplained tiredness
Conditions This Test Can Help Detect
The Sarcoma Extended Gene Panel test procedure supports diagnosis across a wide range of sarcoma subtypes. The test can help identify:
- Ewing sarcoma and Ewing sarcoma family tumours
- Alveolar rhabdomyosarcoma
- Synovial sarcoma
- Extraskeletal myxoid chondrosarcoma
- Clear cell sarcoma
- Myxoid liposarcoma
- Alveolar soft part sarcoma
- Gastrointestinal stromal tumours (GIST)
- Osteosarcoma
- Undifferentiated round cell sarcoma
How to Prepare and What to Expect
Because the Sarcoma Extended Gene Panel test requires tumour tissue rather than blood, the preparation steps are different from those of a routine blood test.
Do You Need to Fast?
No fasting is required. The test uses tumour tissue obtained through a biopsy or surgical procedure, so dietary restrictions do not apply.
Practical Tips Before Your Test
Please keep the following in mind before sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your treating doctor about any prior chemotherapy or radiation treatment, as these may affect the genetic profile of the tumour tissue
- The tumour sample must be collected by a qualified specialist before it can be submitted to the laboratory
- Rapid preservation of the tissue after collection helps maintain sample quality
Step-by-Step Procedure
The following steps outline how the tissue sample is collected and processed:
- A specialist obtains tumour tissue through a core needle biopsy (guided by imaging) or during a surgical procedure
- The tissue sample is fixed in formalin and embedded in paraffin to create an FFPE tissue block, which is the sample required for this test
- The FFPE block is transported to the laboratory at ambient temperature (18 to 28 degrees Celsius)
- Laboratory technologists extract DNA and/or RNA from the tissue sample
- Next-generation sequencing (NGS) is performed to analyse multiple target genes simultaneously
- Results are reviewed by technical specialists and a laboratory director before a final report is issued
Factors That Can Affect Accuracy
Several factors can influence the reliability of results:
- Low RNA or DNA quality in older or poorly preserved FFPE samples
- Insufficient tumour content in the tissue sample (at least 10 to 20% tumour cells are needed for reliable analysis)
- Prior chemotherapy or radiation, which can alter the tumour's genetic profile
- Complex gene rearrangements or alternative breakpoints not covered by the panel's design
Understanding Your Sarcoma Extended Gene Panel Test Results
Results from this test are qualitative and require careful interpretation by a qualified oncologist or molecular pathologist. The table below outlines the main result categories.
| Result Category | What It Means |
|---|---|
| Pathogenic or Likely Pathogenic variant detected | A specific gene fusion or mutation has been identified, supporting the diagnosis of a particular sarcoma subtype |
| Variant of Uncertain Significance (VUS) | A genetic change was detected, but there is currently insufficient evidence to classify it as harmful or benign |
| No pathogenic variant detected | No diagnostic gene fusion or mutation was found within the panel's target genes; this does not completely exclude a sarcoma diagnosis |
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.
Post-Testing Guidance and Care
This is a genetic analysis of tumour tissue, so lifestyle changes cannot alter the test results. However, the following general steps are relevant after receiving your report:
- Attend all follow-up appointments with your oncologist to discuss results and next steps.
- Consider genetic counselling if a hereditary sarcoma syndrome is identified or suspected.
- Keep all previous pathology reports and imaging results accessible, as they will help your doctor interpret the molecular findings in full context.
Lupin Diagnostics Sarcoma Extended Gene Panel Test Price
The Sarcoma Extended Gene Panel test cost starts at ₹45,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre and is performed on tumour tissue obtained through a biopsy or surgical procedure.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 45000 |
| CHENNAI | 45000 |
| HYDERABAD | 45000 |
| KOLKATA | 45000 |
| NAVI MUMBAI | 45000 |
| PUNE | 45000 |
Disclaimer: 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 Sarcoma Extended Gene Panel 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 or follow the instructions provided for submission of the FFPE tissue sample
- Receive your report via email or WhatsApp within the stipulated turnaround time
Frequently Asked Questions
It is a molecular test that uses next-generation sequencing (NGS) to examine tumour tissue for gene fusions, mutations, and other genetic changes linked to sarcoma. It helps confirm the specific subtype of sarcoma and can guide treatment decisions. The sample required is an FFPE tissue block from a biopsy or surgery.
Sarcomas have many subtypes with overlapping features that can be difficult to tell apart using standard pathology alone. The Sarcoma Extended Gene Panel test provides molecular evidence to establish an accurate diagnosis and identify whether any targeted therapy options may be relevant.
The sample is obtained through a biopsy or surgical procedure carried out by a specialist. This is not a routine blood draw. The tissue is then prepared as an FFPE block and submitted to the laboratory for analysis.
At Lupin Diagnostics, the report is delivered within 30 days. Turnaround time can vary depending on sample quality and laboratory workflow.
Yes, in many cases. Detecting specific gene fusions or mutations can confirm the sarcoma subtype, affect treatment planning, and in some instances indicate eligibility for targeted therapies or clinical trials. Your oncologist will interpret the findings in the context of your full clinical picture.
No. This test requires tumour tissue obtained through a biopsy or surgical procedure. Home sample collection is not available. You will need to visit a Lupin Diagnostics centre to submit your sample.
A negative result means no pathogenic gene fusion or mutation was detected within the panel's coverage. This does not completely rule out a sarcoma diagnosis. Your doctor will review the result alongside your pathology report, imaging, and clinical history before drawing any conclusions.
Sarcoma Extended Gene Panel Test
