About Fragile X Syndrome
Key Highlights
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Provides a definitive molecular diagnosis for intellectual disability and autism.Enables accurate genetic counseling for family planning and assessing recurrence risk.Guides personalized educational, behavioral, and therapeutic interventions.Identifies associated health risks (like seizures, connective tissue issues) for proactive management.Can be performed via a simple blood draw, making sample collection straightforward.
Who is this surgery for?
- Unexplained global developmental delay or intellectual disability, especially in males.
- Diagnosis of autism spectrum disorder (ASD).
- Family history of Fragile X Syndrome, intellectual disability, or premature ovarian insufficiency.
- Presence of characteristic physical features (long face, large ears, hyperflexible joints).
- Female individuals with symptoms of Fragile X-associated tremor/ataxia syndrome (FXTAS) or primary ovarian insufficiency (FXPOI).
How to prepare
- Genetic counseling session to discuss the reasons for testing, implications, and potential outcomes.
- Provision of detailed personal and three-generation family medical history.
- Informed consent process explaining the nature of the test and possible results.
- No fasting or special dietary restrictions are typically required before the blood draw.
- Psychological preparation for the potential impact of the diagnosis on the individual and family.
Risks & possible complications
- Primarily psychological and social risks, including emotional distress, anxiety, or stigma upon receiving the diagnosis.
- Potential impact on family dynamics and future family planning decisions.
- Very low physical risk from the blood draw (minor pain, bruising, or faintness).
- Risk of insurance or employment discrimination based on genetic information (protected by law in many regions).
- Uncertainty in interpreting premutation carrier status and its long-term implications.
Recovery & hospital stay
- No physical recovery is needed from the blood test itself; normal activity can resume immediately.
- Post-test genetic counseling is essential to discuss results, their meaning, and next steps.
- Development of a coordinated care plan involving pediatricians, neurologists, speech/occupational therapists, and educational specialists.
- Ongoing emotional and psychological support for the individual and family is a key part of long-term management.
- Regular follow-ups to monitor development, manage associated health issues, and update the care plan as needed.
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Typical hospital stay: 0 days (outpatient)
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Expected recovery time: Not applicable (diagnostic test)
Frequently Asked Questions
If you are considering fragile x syndrome in Turkey, these questions and answers can help you make a confident, informed decision.
Top-rated hospitals in Turkey 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 fragile x syndrome. 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 fragile x syndrome compare across other countries where we have data.
As a 72-year-old retired botanist with...
As a 72-year-old retired botanist with unexplained neurological decline, I was misdiagnosed for years until Dr. Grace Swarna Priya identified my rare ATXN2 gene mutation. Her personalized management plan at MIOT Hospital has slowed my progression remarkably, I can now enjoy gardening again with adapted tools.