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TSC1 Gene Tuberous sclerosis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TSC1 Gene Tuberous sclerosis NGS Genetic Test

Short Name: TSC1 NGS Test

Also known as: TSC1 Gene Test, Tuberous Sclerosis Genetic Test, TSC1 Mutation Analysis

TSC1 Gene Tuberous sclerosis 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the TSC1 gene to confirm a diagnosis of tuberous sclerosis, assess genetic risk, inform treatment decisions, and facilitate genetic counseling for affected individuals and their families.

Test Code
4594
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)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card. Minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities. Store sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand implications. Provide detailed medical and family history.
2
During the Test:Sample collection is quick and minimally invasive. The test involves NGS technology in a laboratory setting.
3
After the Test:Wait for results (3-4 weeks). Discuss findings with a geneticist or healthcare provider for next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TSC1 gene to confirm a diagnosis of tuberous sclerosis, assess genetic risk, inform treatment decisions, and facilitate genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for tuberous sclerosis is essential for early diagnosis, family planning, and management. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the TSC1 gene. Positive results confirm genetic basis for tuberous sclerosis, while negative results may require further testing or clinical correlation.
📊

Positive for pathogenic mutation

Confirms diagnosis of tuberous sclerosis due to TSC1 gene mutation. Genetic counseling recommended.

📊

Negative for mutation

No TSC1 gene mutation detected. Consider TSC2 gene testing or other diagnostic methods if clinical suspicion remains.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unknown. Follow-up testing and consultation advised.

⚠️ When to Consult a Doctor:

If symptoms of tuberous sclerosis are present, such as seizures, skin lesions, or developmental issues, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestTSC1 Gene Tuberous sclerosis NGS Genetic TestTSC2 Gene TestMRI BrainGenetic Counseling Panel
ComparisonTSC1 Gene Tuberous sclerosis NGS Genetic TestDetects mutations in TSC2 gene, another cause of tuberous sclerosis. Often performed alongside TSC1 test for comprehensive diagnosis.Imaging test to identify cortical tubers and other brain abnormalities in tuberous sclerosis.Broader genetic testing panel that may include multiple genes associated with neurological disorders.

Frequently Asked Questions

What is the TSC1 Gene Tuberous Sclerosis NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the TSC1 gene, which is associated with tuberous sclerosis, a rare genetic disorder causing tumor growth in multiple organs.
Who should consider getting this test?
Individuals with symptoms of tuberous sclerosis, such as seizures, skin abnormalities, or developmental delays, or those with a family history of the condition.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify mutations in the TSC1 gene.
What is the cost of the test in India?
The test costs INR 20,000, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result indicates a TSC1 gene mutation, confirming tuberous sclerosis. A negative result means no mutation was detected, but further testing may be needed.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological implications.
Can the test detect all mutations in the TSC1 gene?
NGS is highly sensitive but may not detect all mutation types, such as large deletions. Consult a geneticist for interpretation.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand the implications of testing and results for the individual and family.
What is tuberous sclerosis?
Tuberous sclerosis is a genetic disorder that causes noncancerous tumors to grow in the brain, skin, kidneys, and other organs, leading to various symptoms.
How accurate is the NGS genetic test for tuberous sclerosis?
NGS is a reliable method for detecting gene mutations, with high accuracy. However, clinical correlation is essential for diagnosis.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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