TSC1 & TSC2 Gene Analysis Test
About TSC1 & TSC2 Gene Analysis Test
| Field | Value |
|---|---|
| Also Known As | Tuberous Sclerosis Gene Panel, TSC Gene Analysis, TSC1/TSC2 Mutation Analysis, Tuberous Sclerosis Complex Genetic Test |
| Sample Type | Chorionic villus (CVS), amniotic fluid, or peripheral blood (EDTA) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | All genders and ages; primarily infants, children, and adults with suspected tuberous sclerosis complex or a family history of TSC |
| Price | Starting at ₹21,600 |
What is a TSC1 & TSC2 Gene Analysis Test?
The TSC1 & TSC2 gene analysis test is a molecular genetic test that examines two specific genes, TSC1 and TSC2, for mutations that cause tuberous sclerosis complex (TSC). TSC is a genetic disorder in which non-cancerous tumours grow in multiple organs throughout the body. The test is ordered for individuals showing symptoms of TSC or those with an affected family member. Samples used include chorionic villus (CVS) tissue, amniotic fluid, or peripheral blood, depending on the clinical situation.
What Does a TSC1 & TSC2 Gene Analysis Test Measure?
This test analyses two genes that together regulate cell growth and division. Mutations in either gene can disrupt this process and lead to TSC. Here is what each gene does:
| Gene | Protein Produced | Function |
|---|---|---|
| TSC1 | Hamartin | Works with tuberin to suppress uncontrolled cell growth |
| TSC2 | Tuberin | Regulates the mTOR pathway, which controls cell size and metabolism |
| TSC1 + TSC2 complex | Hamartin-tuberin complex | Acts as a tumour suppressor by controlling cell proliferation |
When either gene carries a disease-causing mutation, the TSC complex cannot regulate the mTOR pathway properly. This leads to uncontrolled cell growth and the formation of benign tumours across multiple organ systems.
Why is a TSC1 & TSC2 Gene Analysis Test Done?
Doctors request this test when clinical findings point to tuberous sclerosis complex or when there is a known family history. It confirms a genetic diagnosis and guides further care decisions.
Common Symptoms That May Require This Test
The following symptoms are among the most common reasons a doctor may request a TSC1 & TSC2 gene analysis test:
- Seizures, including infantile spasms, focal seizures, or tonic-clonic episodes
- Developmental delays and intellectual disabilities
- Skin changes such as light-coloured patches, facial growths, or thickened skin patches
- Kidney problems, including cysts or angiomyolipomas (benign growths of fatty tissue and muscle)
- Shortness of breath, chest pain, or lung complications in adult women
- Heart tumours (rhabdomyomas) detected during foetal or infant assessment
- Eye abnormalities, including retinal growths
Conditions This Test Can Help Detect
The test is used primarily to identify or confirm the following conditions:
- Tuberous sclerosis complex (TSC), affecting the brain, skin, kidneys, heart, lungs, and eyes
- Lymphangioleiomyomatosis (LAM), a destructive lung condition linked to TSC2 mutations, occurring almost exclusively in women
- Subependymal giant cell astrocytoma, a type of brain tumour associated with TSC
- Cortical tubers and subependymal nodules affecting brain function and causing seizures
How to Prepare and What to Expect
No special preparation is required for this test. However, there are a few important steps to take before your appointment.
Do You Need to Fast?
No fasting is required for the TSC1 & TSC2 gene analysis test. You may eat and drink normally before your sample is collected.
Practical Tips Before Your Test
Please keep the following in mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor about all medications you are currently taking
- If a family member has already been diagnosed with TSC, share their test results and mutation details with your doctor, as this helps make your own testing more informative
- Genetic counselling is strongly recommended before and after the test to understand what the results mean for you and your family
Step-by-Step Procedure
The sample collection process differs depending on the type of specimen required. Your doctor will advise which sample is appropriate for your situation.
For Peripheral Blood (EDTA tube):
- A healthcare professional will explain the test and collect your written consent.
- A small blood sample (3 ml) is drawn from a vein in your arm using a sterile needle.
- The blood is collected into a lavender-top EDTA tube and labelled.
- The sample is stored at 2 to 8 degrees Celsius and dispatched to the laboratory.
- DNA is extracted from the blood and analysed using Next Generation Sequencing (NGS).
- Results are reported within 35 days.
For Chorionic Villus Sample (CVS):
- A specialist will explain the procedure, which is performed in a clinical setting.
- A small amount of chorionic villus tissue (30 mg) is collected using an obstetric procedure.
- The sample is placed in a sterile container and kept refrigerated between 2 and 8 degrees Celsius.
- The sample is dispatched to the laboratory Monday through Saturday.
- NGS analysis is performed on the extracted DNA.
- Results are available within 35 days.
For Amniotic Fluid:
- The procedure is performed by a specialist under clinical supervision.
- A 20 ml amniotic fluid sample is drawn using an amniocentesis technique and collected in a Falcon tube.
- The sample is stored and transported as per laboratory guidelines.
- DNA is extracted and sequenced using NGS.
- Results are reported within 35 days.
Factors That Can Affect Accuracy
Several factors can influence the reliability of test results:
- Poor DNA quality from a degraded or contaminated sample
- Mosaicism, where only a subset of cells carries the mutation, which may cause it to be missed
- Technical limitations in sequencing regions with high GC content or repetitive sequences
- Deep intronic variants that fall outside standard sequencing coverage
- A previous allogeneic bone marrow transplant, which can affect DNA analysis and result interpretation
Understanding Your TSC1 & TSC2 Gene Analysis Test Results
Results from this test are reported as categories rather than numerical values. A genetic counsellor or specialist doctor should always review the findings alongside your clinical history. The table below explains the possible result categories.
| Result Category | What It Means |
|---|---|
| Pathogenic variant | A disease-causing mutation is detected; confirms TSC diagnosis |
| Likely pathogenic variant | A variant is very likely disease-causing; considered diagnostic |
| Variant of uncertain significance (VUS) | Variant detected, but its clinical significance is unclear; does not confirm or rule out TSC |
| Likely benign variant | A variant is unlikely to cause disease |
| Benign variant | A normal genetic variant with no clinical significance |
| No variant detected | No mutation found; does not rule out TSC |
Current testing methods identify a disease-causing TSC1 or TSC2 variant in nearly 90% of patients with a confirmed clinical diagnosis of TSC. Among those with a detectable mutation, approximately 26% carry a TSC1 variant and around 74% carry a TSC2 variant. TSC2 mutations are generally associated with a more severe range of symptoms.
Disclaimer: These categories are general guidelines. Your doctor will interpret your results based on your age, health history, clinical findings, and family history. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
Because TSC is caused by an inherited or new genetic mutation, no lifestyle change can prevent or reverse it. The following general guidance applies:
- If you receive a positive result, follow your specialist's recommendations for regular monitoring and surveillance of affected organs.
- Genetic counselling is advised for family planning, as TSC follows an autosomal dominant inheritance pattern — only one copy of the altered gene is needed to cause the condition.
- At-risk family members can undergo targeted testing once a mutation has been identified in an affected relative.
Lupin Diagnostics TSC1 & TSC2 Gene Analysis Test Price
The TSC1 & TSC2 gene analysis test cost at Lupin Diagnostics starts at ₹21,600. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
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 your TSC1 & TSC2 gene analysis test online with 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
This test identifies mutations in the TSC1 and TSC2 genes to confirm a diagnosis of tuberous sclerosis complex (TSC). It also helps identify whether at-risk family members carry the same mutation, and can be used in prenatal settings when foetal imaging raises suspicion of TSC.
The sample type depends on your clinical situation. A peripheral blood draw is the most common method for routine testing. In prenatal cases, chorionic villus (CVS) tissue or amniotic fluid may be collected instead. Your doctor will advise which sample is needed.
Results for the TSC1 & TSC2 gene analysis test take approximately 35 days from the date the laboratory receives your sample. The turnaround time is longer than routine blood tests because the analysis involves complex NGS-based sequencing.
No. A negative result does not exclude TSC. Approximately 10 to 20% of individuals with clinically confirmed TSC do not have a detectable mutation on standard testing. Your doctor may still make a clinical diagnosis based on symptoms, imaging, and family history.
A VUS means a genetic variant was found, but there is not yet enough scientific evidence to determine whether it causes disease. A VUS result neither confirms nor rules out TSC. Your doctor or genetic counsellor may recommend follow-up over time as more data becomes available.
Yes. Once a disease-causing mutation is identified in an affected individual, other family members can be tested specifically for that mutation. This targeted approach is more informative and supports decisions around family planning and early surveillance.
Yes. Genetic counselling before and after the TSC gene analysis test is strongly recommended. A genetic counsellor can help you understand what the results mean, how TSC may affect other family members, and what options are available for family planning and long-term management.
TSC1 & TSC2 Gene Analysis Test
