SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test
Understanding SCA6 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 6 (SCA6) is an inherited neurological disorder that progressively affects the cerebellum, the brain region responsible for coordinating movement and balance. This autosomal dominant condition results from specific genetic mutations in the CACNA1A gene, which plays a critical role in calcium channel function within nerve cells. The SCA6 CACNA1A Gene Mutation Test represents a breakthrough in neurological diagnostics, providing definitive genetic confirmation for individuals experiencing movement coordination challenges.
What Does the Test Detect?
This advanced genetic test specifically identifies CAG trinucleotide repeat expansions in the CACNA1A gene located on chromosome 19. The test measures:
- CAG repeat length in the CACNA1A gene coding region
- Presence of abnormal repeat expansions beyond the normal range
- Genetic confirmation of Spinocerebellar Ataxia Type 6
- Inheritance pattern information for family planning
Technical Methodology
Our state-of-the-art laboratory employs Polymerase Chain Reaction (PCR) followed by Fragment Analysis to precisely determine the number of CAG repeats. This molecular diagnostic approach ensures high accuracy and reliability in detecting the genetic abnormalities associated with SCA6.
Who Should Consider This Test?
This genetic test is particularly important for individuals experiencing:
- Progressive gait instability and coordination difficulties
- Slurred speech and dysarthria
- Nystagmus (involuntary eye movements)
- Balance problems and frequent falls
- Family history of ataxia or movement disorders
- Unexplained neurological symptoms in adulthood
- Individuals planning pregnancy with family history of SCA6
Clinical Benefits of SCA6 Testing
Early genetic testing for SCA6 provides numerous advantages:
- Accurate Diagnosis: Differentiates SCA6 from other ataxia types
- Treatment Planning: Enables targeted therapeutic approaches
- Genetic Counseling: Provides essential information for family planning
- Prognostic Information: Helps understand disease progression patterns
- Clinical Trial Eligibility: Opens access to specialized treatments
- Family Screening: Identifies at-risk relatives for early intervention
Understanding Your Test Results
Our comprehensive result interpretation includes:
Normal Results
Normal CACNA1A gene with CAG repeats within the typical range (4-18 repeats) indicates no genetic predisposition to SCA6. However, clinical evaluation by a neurologist remains important for unexplained symptoms.
Abnormal Results
Expanded CAG repeats (typically 20-33) confirm SCA6 diagnosis. Our genetic counselors provide detailed explanations about:
- Disease inheritance patterns
- Expected symptom progression
- Management strategies
- Family testing recommendations
Intermediate Results
Some individuals may show intermediate repeat lengths that require specialized interpretation and ongoing monitoring.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test – Discount Price | $100 |
| SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test – Regular Price | $188 |
Sample Requirements and Processing
Sample Type: 4 mL (2 mL minimum) 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) is mandatory
Turnaround Time: Sample received by Tuesday 11 AM; Report delivered by Saturday
Nationwide Accessibility
We have diagnostic branches across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our extensive network ensures convenient access to advanced genetic testing services nationwide.
Take Control of Your Neurological Health
Early detection of SCA6 through genetic testing can significantly impact disease management and quality of life. Our expert team of neurologists and genetic counselors provide comprehensive support throughout the testing process and beyond.
Ready to schedule your SCA6 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health and making informed decisions for your future.
