SCA17 Spinocerebellar Ataxia TBP Gene Mutation Test
Comprehensive Genetic Testing for Hereditary Ataxia
The SCA17 Spinocerebellar Ataxia TBP Gene Mutation Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the TATA-box binding protein (TBP) gene associated with spinocerebellar ataxia type 17. This progressive neurodegenerative disorder affects the cerebellum and brainstem, leading to significant motor coordination challenges and neurological symptoms that typically manifest in adulthood.
What Does the SCA17 Test Measure?
This advanced molecular diagnostic test specifically analyzes the TBP gene for abnormal CAG/CAA repeat expansions, which are the primary genetic cause of SCA17. The test utilizes cutting-edge PCR and fragment analysis technology to:
- Detect abnormal trinucleotide repeat expansions in the TBP gene
- Quantify the exact number of CAG/CAA repeats
- Differentiate between normal, intermediate, and pathogenic repeat lengths
- Provide definitive genetic confirmation of SCA17 diagnosis
Who Should Consider SCA17 Genetic Testing?
This test is particularly recommended for individuals experiencing:
- Progressive coordination difficulties and balance problems
- Family history of spinocerebellar ataxia or unexplained neurological disorders
- Speech difficulties, including slurred or scanning speech patterns
- Involuntary movements, tremors, or muscle stiffness
- Cognitive changes or psychiatric symptoms with movement disorders
- Unexplained gait abnormalities or frequent falls
Key Benefits of SCA17 Genetic Testing
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Differential Diagnosis: Helps distinguish SCA17 from other forms of ataxia
- Prognostic Information: Offers insights into disease progression and potential symptoms
- Treatment Guidance: Informs personalized therapeutic approaches and symptom management
Understanding Your Test Results
Your SCA17 genetic test results will fall into one of several categories:
- Normal Range: Typically 25-42 CAG/CAA repeats indicates no increased risk for SCA17
- Intermediate Range: 43-47 repeats may suggest potential risk with reduced penetrance
- Pathogenic Range: 48 or more repeats confirms SCA17 diagnosis with full penetrance
Our genetic counselors provide comprehensive result interpretation and guidance for next steps, including family testing recommendations and management strategies.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SCA17 Spinocerebellar Ataxia TBP Gene Mutation Test |
| Discount Price | $112 USD |
| Regular Price | $200 USD |
| Turnaround Time | 10-12 days |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Methodology | PCR, Fragment Analysis |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The SCA17 Spinocerebellar Ataxia TBP Gene Mutation Test provides the clarity needed for informed healthcare decisions and proactive management of hereditary neurological conditions.
Ready to schedule your genetic test? Contact our specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
