SCA11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test
Understanding SCA11 Spinocerebellar Ataxia
Spinocerebellar ataxia type 11 (SCA11) represents a rare autosomal dominant neurodegenerative disorder characterized by progressive impairment of motor coordination and balance. This hereditary condition results from specific mutations in the TTBK2 (Tau Tubulin Kinase 2) gene, which plays a crucial role in neuronal function and cerebellar development. The SCA11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test provides definitive genetic confirmation for individuals suspected of having this neurological condition, enabling early intervention and personalized treatment strategies.
What Does the Test Detect?
This advanced genetic test specifically identifies mutations in the TTBK2 gene through sophisticated molecular diagnostic techniques:
- Comprehensive analysis of the TTBK2 gene sequence
- Detection of point mutations, insertions, and deletions
- Identification of pathogenic variants associated with SCA11
- Assessment of genetic markers for disease progression
Technical Methodology
Our test employs cutting-edge PCR (Polymerase Chain Reaction) and DNA sequencing technologies to ensure accurate and reliable results. The molecular diagnostics department utilizes state-of-the-art equipment and follows rigorous quality control protocols to deliver precise genetic information.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Progressive gait instability and coordination difficulties
- Uncontrollable tremors or involuntary movements
- Slurred speech and dysarthria
- Family history of hereditary ataxia or neurological disorders
- Unexplained balance problems beginning in adulthood
- Progressive difficulty with fine motor skills
Family Planning Considerations
Individuals with known family history of SCA11 or related neurological conditions should consider genetic testing for informed reproductive decisions and early intervention strategies.
Benefits of SCA11 Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for genetic counseling
- Personalized Treatment: Guides neurologists in developing targeted care plans
- Peace of Mind: Offers definitive answers for unexplained neurological symptoms
- Proactive Management: Facilitates early implementation of supportive therapies
- Research Contribution: Helps advance understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of neurological genetics specialists:
Positive Result
A positive result indicates the presence of a pathogenic TTBK2 gene mutation associated with SCA11. This confirmation enables:
- Comprehensive neurological evaluation and monitoring
- Development of personalized rehabilitation programs
- Family genetic counseling services
- Access to specialized neurological care
Negative Result
A negative result suggests the absence of known SCA11-associated TTBK2 mutations. However, continued neurological evaluation may be recommended if symptoms persist, as other forms of ataxia or neurological conditions may be present.
Variant of Uncertain Significance
In some cases, genetic variations of unknown clinical significance may be identified. Our genetic counselors will provide detailed explanations and recommendations for further evaluation if needed.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| SCA11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test | $188 $300 |
Test Specifications
- Turnaround Time: 10-12 days
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube
- Shipping Instructions: Ship refrigerated. DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20)
- Test Component: TTBK2 Gene Analysis
- Methodology: PCR and Sequencing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The SCA11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test provides the clarity needed to make informed healthcare decisions and access appropriate neurological care.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1 (267) 388-9828 or book your appointment online. Our specialists are available to answer your questions and guide you through the testing process.
Take the first step toward understanding your neurological health with confidence and precision. Early detection through genetic testing can significantly impact treatment outcomes and quality of life for individuals with hereditary ataxia conditions.
