TSC1 & TSC2 Gene Analysis Test
Also known as: Tuberous Sclerosis Complex Gene Test, TSC Genetic Test
TSC1 & TSC2 Gene Analysis Test test available at DNA Labs India for ₹36,000. Uses Next-Generation Sequencing (NGS) on Peripheral blood, Amniotic fluid, Chorionic villi samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TSC1 & TSC2 Gene Analysis is to identify mutations in the TSC1 and TSC2 genes, which are responsible for Tuberous Sclerosis Complex. This test aids in confirming a clinical diagnosis, guiding treatment decisions, assessing disease risk, and providing genetic counseling for affected individuals and their families.
- Test Code
- 3229
- Price
- ₹36,000
- Sample Type
- Peripheral blood, Amniotic fluid, Chorionic villi
- Result Time
- 4-6 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Consult with a healthcare provider for a prescription if required. Prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
Method: Venipuncture for blood; Amniocentesis or CVS for prenatal samples
Laboratory Analysis
Sample collection is performed by a trained phlebotomist or specialist. For blood samples, venipuncture is used; for prenatal samples, amniocentesis or chorionic villus sampling (CVS) may be performed.
Report Delivery
Samples are transported to the laboratory under controlled conditions to ensure integrity. Follow-up with the healthcare provider for result interpretation.
Timeline: 4-6 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TSC1 & TSC2 Gene Analysis is to identify mutations in the TSC1 and TSC2 genes, which are responsible for Tuberous Sclerosis Complex. This test aids in confirming a clinical diagnosis, guiding treatment decisions, assessing disease risk, and providing genetic counseling for affected individuals and their families.
How to Prepare
- For peripheral blood: Collect in an EDTA Vacutainer (3 ml), mix gently to avoid hemolysis
- For amniotic fluid or chorionic villi: Collect in sterile containers with sterile normal saline if needed
- Ensure proper labeling with patient details and sample type
- Maintain cool pack during transportation for sample stability
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TSC is crucial for early intervention and genetic counseling, especially in families with a history of the disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Improperly labeled or contaminated samples
- Samples not stored or transported as per guidelines
Understanding Your Results
Mutation Detected in TSC1 or TSC2
Confirms a diagnosis of Tuberous Sclerosis Complex. Genetic counseling and further clinical evaluation are recommended.
No Mutation Detected
TSC is unlikely based on genetic testing, but clinical correlation is necessary. Consider other diagnostic tests if symptoms persist.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Repeat testing or family studies may be advised.
Consult a doctor if you or a family member experience symptoms such as seizures, skin lesions (e.g., facial angiofibromas), developmental delays, or have a known family history of TSC. Early consultation can facilitate timely diagnosis and management.
Limitations
- ⚠May not detect all types of mutations, including large deletions or deep intronic variants
- ⚠Requires clinical correlation for definitive diagnosis
- ⚠Prenatal testing has specific ethical and clinical considerations
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
- ●For prenatal samples, risks associated with amniocentesis or CVS, such as miscarriage
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Hemolyzed or clotted blood samples
Frequently Asked Questions
What is the TSC1 & TSC2 Gene Analysis?
Why is this test recommended?
What is the cost of the test?
How is the test performed?
Is home sample collection available?
What is the turnaround time for results?
Is fasting required for this test?
What are the symptoms of Tuberous Sclerosis Complex?
Can this test be done during pregnancy?
What if a mutation is detected?
Is the test accurate?
How do I book the test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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