About Tuberous Sclerosis
Key Highlights
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Provides a definitive molecular diagnosis through genetic testing.Enables accurate assessment of familial inheritance and recurrence risks.Guides personalized, multi-disciplinary management and surveillance plans.Facilitates early intervention for potential complications.Offers crucial genetic counseling for patients and family members.
Who is this surgery for?
- Clinical suspicion of Tuberous Sclerosis based on major or minor diagnostic criteria (e.g., facial angiofibromas, hypomelanotic macules, seizures).
- Family history of Tuberous Sclerosis or related symptoms.
- Unexplained findings such as cardiac rhabdomyomas in a fetus or infant.
- To confirm diagnosis for proper access to specialized care and monitoring programs.
- For prenatal or preimplantation genetic diagnosis in families with a known mutation.
How to prepare
- Referral from a neurologist, dermatologist, or pediatrician based on clinical findings.
- Detailed collection of personal and family medical history.
- Pre-test genetic counseling to discuss the process, implications, and potential outcomes.
- Provision of a blood or saliva sample for DNA analysis.
- Completion of necessary consent forms for genetic testing.
Risks & possible complications
- Psychological impact of receiving a genetic diagnosis for a lifelong condition.
- Potential for uncertain or variant of unknown significance (VUS) results, which may not provide clear answers.
- Privacy concerns related to genetic information.
- Implications for other family members, which may cause familial stress.
- There are no physical risks from the blood draw or saliva collection itself.
Recovery & hospital stay
- No physical recovery is needed from the genetic test sample collection.
- Post-test genetic counseling is essential to discuss results, their meaning, and next steps.
- Development of a long-term, personalized management plan with a multi-specialist team.
- Initiation of regular surveillance (e.g., brain, kidney, heart imaging) as recommended.
- Ongoing support and counseling to address emotional and social aspects of living with a genetic disorder.
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Typical hospital stay: 0 days (outpatient)
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Expected recovery time: Not applicable
Frequently Asked Questions
If you are considering tuberous sclerosis in India, these questions and answers can help you make a confident, informed decision.
Top-rated hospitals in India with genetic medicine departments and experienced surgeons are ideal for this procedure. Use MediFyr to compare facilities, reviews, and doctor profiles before you decide.
Look at the doctor’s years of experience, hospital association, patient reviews, and how often they perform tuberous sclerosis. MediFyr helps you compare genetic medicines and book consultations online.
The overall cost depends on hospital category, surgeon’s experience, room type, implant or device used (if any), length of stay, tests, and post-operative care. Our team can help you get cost estimates from multiple hospitals before you decide.
Procedure cost in other countries
Here is an overview of how the estimated cost, hospital stay, and recovery time for tuberous sclerosis compare across other countries where we have data.
Diya Khan is a 28-year-old elementary...
Diya Khan is a 28-year-old elementary school teacher who has always been healthy and active. Her journey began when she started experiencing brief, unsettling episodes where she would lose awareness for a few seconds, often dropping whatever was in her hand. Around the same time, she noticed small, reddish bumps appearing on her nose and cheeks. Concerned, she visited her primary care doctor, who referred her to a neurologist and a dermatologist. The neurologist, after an EEG showed abnormal brain activity, noted the skin findings and suspected a genetic link. He referred Diya to a Genetic Medicine specialist. The specialist, after a detailed family history (which was unremarkable) and a physical exam noting the facial angiofibromas and hypomelanotic macules on her torso, strongly recommended genetic testing for Tuberous Sclerosis Complex (TSC). Diya underwent a blood draw for the test. The experience was physically simple but emotionally heavy, as she waited weeks for answers. The test confirmed a mutation in the TSC2 gene, diagnosing her with TSC. The post-diagnosis outcome involved starting anti-seizure medication, which successfully controlled her absence seizures, and a full-body MRI to screen for other TSC manifestations, which were thankfully minimal. Emotionally, Diya was initially terrified and confused by the diagnosis of a lifelong, multi-system condition. However, receiving a clear answer was paradoxically a relief, ending the uncertainty. Connecting with a TSC patient support group and learning her case was mild and manageable transformed her fear into a sense of control. She now advocates for herself with a proactive care team.
Genetic Medicines for Tuberous Sclerosis
Explore experienced genetic medicines who regularly perform tuberous sclerosis and provide pre- and post-operative care in India.
- 16 Years Experience
- Genetic Medicine
Miot Hospital Chennai, Chennai
- 14 Years Experience
- Genetic Medicine
Miot Hospital Chennai, Chennai
- 4 Years Experience
- Genetic Medicine
Miot Hospital Chennai, Chennai