TSC1 & TSC2 Gene Analysis by NGS Test

What is the TSC1 & TSC2 Gene Analysis by NGS Test?

The TSC1 & TSC2 Gene Analysis by NGS Test is a genetic blood test used to diagnose Tuberous Sclerosis Complex, a rare inherited condition that causes non cancerous tumours to develop in multiple organs such as the brain, skin, kidneys, heart, and lungs.

This test analyses the TSC1 and TSC2 genes using next generation sequencing technology. Identifying a pathogenic variant helps confirm the diagnosis, assess disease severity, and guide long-term monitoring and treatment decisions. The test requires a blood sample collected in an EDTA tube.

What Does the TSC1 & TSC2 Gene Analysis by NGS Test Measure?

This genetic test looks for disease causing changes in genes linked to Tuberous Sclerosis Complex:

• Detects pathogenic variants in the TSC1 and TSC2 genes
• Helps confirm a genetic diagnosis of Tuberous Sclerosis Complex
• Supports early diagnosis in individuals with seizures or characteristic skin findings
• Aids genetic counselling and family risk assessment
• Guides treatment planning and tumour surveillance strategies

TSC1 & TSC2 Gene Analysis by NGS Test: Who Needs It and Why It’s Done

What Symptoms May Call for a TSC1 & TSC2 Gene Analysis by NGS Test?

Doctors may recommend this test if you or your child show features suggestive of Tuberous Sclerosis Complex, such as:

• Seizures beginning in infancy or early childhood
• White or light coloured patches on the skin
• Facial angiofibromas or thickened skin areas
• Developmental delay or learning difficulties
• Benign tumours detected in the brain, kidneys, or heart

Who Should Get a TSC1 & TSC2 Gene Analysis by NGS Test?

This test may be advised for:

• Individuals with clinical features of Tuberous Sclerosis Complex
• Children with unexplained seizures and skin findings
• Patients with multiple benign tumours across different organs
• Families with a known history of Tuberous Sclerosis Complex
• Couples seeking genetic counselling for inherited neurocutaneous disorders

Why is the TSC1 & TSC2 Gene Analysis by NGS Test Done?

The test helps confirm the genetic cause of Tuberous Sclerosis Complex, allowing accurate diagnosis, targeted treatment, and informed long-term care planning.

TSC1 & TSC2 Gene Analysis by NGS Test Booking & Reports – Metropolis Healthcare

How to Book the TSC1 & TSC2 Gene Analysis by NGS Test and Get Your Reports?

1. Simple Online Booking
   Booking can be done through the Metropolis Healthcare App or website. Select the TSC1 & TSC2 Gene Analysis by NGS Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
2. Safe Home Sample Collection
   Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
3. Sample Tracking Updates
   You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
4. Accurate Laboratory Testing
   Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
5. Quick and Easy Reports
   Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for TSC1 & TSC2 Gene Analysis by NGS Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the TSC1 & TSC2 Gene Analysis by NGS Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the TSC1 & TSC2 Gene Analysis by NGS Test Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get TSC1 & TSC2 Gene Analysis by NGS Test Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting TSC1 & TSC2 Gene Analysis by NGS Test Results

What Your TSC1 & TSC2 Gene Analysis Results May Indicate

Understanding Abnormal TSC1 & TSC2 Gene Analysis Results by Gene

How Should You Prepare for a TSC1 & TSC2 Gene Analysis by NGS Test?

This genetic test requires minimal preparation from your side:

• No fasting required: You can eat and drink normally before sample collection
• Normal hydration: Maintain your usual fluid intake
• Medication disclosure: Inform your doctor about any medicines or supplements you are taking
• Share clinical history: Provide relevant medical and family history as advised
• Consent and documentation: Ensure the test requisition form and genetic history details are completed

How Is a TSC1 & TSC2 Gene Analysis by NGS Test Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

• Preparation: A tourniquet is tied around your arm to make veins more visible
• Cleaning: The puncture site is cleaned with antiseptic
• Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
• Completion: The needle is removed, and a bandage is applied
• Processing: The sample undergoes next generation sequencing to analyse the TSC1 and TSC2 genes

Conditions That May Affect TSC1 & TSC2 Gene Analysis by NGS Test Accuracy

Certain patient related factors may influence test interpretation:

• Recent blood transfusion, which may affect genetic analysis
• Incomplete or inaccurate family history details
• Presence of mosaic genetic changes that may require clinical correlation

Diseases That the TSC1 & TSC2 Gene Analysis by NGS Test Can Help Detect

• Tuberous Sclerosis Complex
• Inherited neurocutaneous syndromes
• Genetic disorders associated with benign tumour formation

References

1. Crino P.B., Nathanson K.L., Henske E.P. (2006). The tuberous sclerosis complex. New England Journal of Medicine, 355(13), 1345–1356. PMID: 17005952
2. Northrup H., Koenig M.K., Pearson D.A., et al. (2015). Tuberous sclerosis complex diagnostic criteria update. Pediatric Neurology, 49(4), 243–254. PMID: 24053982
3. Curatolo P., Bombardieri R., Jozwiak S. (2008). Tuberous sclerosis. Lancet, 372(9639), 657–668. PMID: 18722871