TSC2 Gene Tuberous sclerosis type 2 NGS Genetic Test
Short Name: TSC2 NGS Test
Also known as: Tuberous Sclerosis Complex Type 2, TSC2 Gene Mutation Test, TSC2 NGS Analysis
TSC2 Gene Tuberous sclerosis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic Test is to identify mutations in the TSC2 gene for accurate diagnosis of Tuberous Sclerosis Type 2, guide clinical management, assess recurrence risk in families, and facilitate genetic counseling.
- Test Code
- 4596
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Ensure genetic counseling is scheduled to discuss test implications and family history.
Method: Venipuncture or Cheek swab
Laboratory Analysis
A blood sample will be drawn from a vein in the arm or a cheek swab collected using a sterile swab. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store samples as instructed if self-collected.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic Test is to identify mutations in the TSC2 gene for accurate diagnosis of Tuberous Sclerosis Type 2, guide clinical management, assess recurrence risk in families, and facilitate genetic counseling.
How to Prepare
- Use sterile equipment for blood draw or cheek swab
- Label samples correctly with patient details
- Transport samples at ambient room temperature to the laboratory within 48 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for TSC2 is crucial for timely management, family planning, and monitoring potential complications in multiple organ systems."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Tuberous Sclerosis Type 2. Genetic counseling and clinical management recommended.
Negative for pathogenic variant
No mutations detected in the TSC2 gene. Consider other genetic causes or clinical evaluation if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a healthcare provider or genetic specialist if you have symptoms of TSC, a family history of the disorder, or after receiving test results for personalized management and counseling.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications not covered by NGS
- ⚠Results require interpretation by a genetic specialist and clinical correlation
- ⚠Does not replace comprehensive clinical evaluation for TSC diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Psychological impact of genetic results, addressed through genetic counseling
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Presence of inhibitors in the sample affecting NGS analysis
Compare With Similar Tests
| Test | TSC2 Gene Tuberous sclerosis type 2 NGS Genetic Test | TSC1 Gene Tuberous Sclerosis Type 1 NGS Genetic Test | Comprehensive Epilepsy Gene Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | TSC2 Gene Tuberous sclerosis type 2 NGS Genetic Test | Tests for mutations in the TSC1 gene, which causes a similar disorder. Both tests are often recommended together for comprehensive diagnosis. | Includes multiple genes associated with epilepsy, which can be a symptom of TSC. Useful for broader diagnostic workup. | Analyzes all protein-coding genes, providing a broader scope but higher cost. TSC2 NGS test is more targeted and cost-effective for suspected TSC. |
Frequently Asked Questions
What is the TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic Test?
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How long does it take to get results?
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What if the test is negative?
Is genetic counseling required before testing?
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How accurate is the NGS test for TSC2?
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