TH Gene Segawa Syndrome Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The TH Gene Segawa Syndrome Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced next-generation sequencing test specifically targets mutations in the tyrosine hydroxylase (TH) gene, which plays a critical role in dopamine synthesis. Segawa syndrome, also known as dopamine-responsive dystonia, is a rare inherited movement disorder that typically manifests in childhood and responds remarkably well to L-DOPA treatment when diagnosed early.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis examines the entire TH gene sequence to identify:
- Autosomal recessive inheritance patterns of Segawa syndrome
- Point mutations, deletions, and insertions in the TH gene
- Specific genetic variants affecting tyrosine hydroxylase enzyme function
- Carrier status for family members and genetic counseling purposes
- Dopamine synthesis pathway disruptions leading to neurological symptoms
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Progressive dystonia symptoms worsening throughout the day
- Childhood-onset movement disorders with diurnal fluctuation
- Family history of autosomal recessive neurological conditions
- Unresponsive dystonia cases requiring precise diagnosis
- Suspected dopamine-responsive movement disorders
- Consanguineous family backgrounds with neurological symptoms
Key Benefits of TH Gene Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Segawa syndrome
- Treatment Guidance: Enables targeted L-DOPA therapy with optimal dosing
- Family Planning: Identifies carrier status and inheritance risks
- Early Intervention: Facilitates timely treatment before symptom progression
- Prognostic Information: Helps predict disease course and treatment response
- Genetic Counseling: Supports informed family decision-making
Understanding Your Test Results
Your genetic test results will provide clear guidance on:
- Positive Result: Confirms TH gene mutations and Segawa syndrome diagnosis, enabling immediate treatment initiation
- Negative Result: Excludes TH-related Segawa syndrome, directing further diagnostic evaluation
- Carrier Status: Identifies individuals with single gene copies who may pass the condition to offspring
- Variant of Unknown Significance: Requires additional family studies and clinical correlation
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TH Gene Segawa Syndrome Autosomal Recessive NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Control of Your Neurological Health
Don’t let uncertainty about movement disorders affect your quality of life. Our TH Gene Segawa Syndrome testing provides the clarity needed for effective treatment planning and improved outcomes. With rapid 3-4 week turnaround time and comprehensive genetic counseling support, you’ll receive the answers you need to make informed healthcare decisions.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward precise diagnosis and targeted treatment for neurological symptoms.
