CACNA1A Gene Spinocerebellar Ataxia Type 6 Autosomal Dominant NGS Genetic DNA Test
Understanding Spinocerebellar Ataxia Type 6
Spinocerebellar ataxia type 6 (SCA6) is a progressive neurological disorder characterized by the gradual degeneration of the cerebellum, the brain region responsible for coordinating movement and maintaining balance. This autosomal dominant condition results from specific genetic mutations in the CACNA1A gene, which encodes calcium channel proteins essential for proper neuronal function. The CACNA1A Gene Spinocerebellar Ataxia Type 6 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, providing precise identification of the underlying genetic cause for individuals experiencing movement coordination challenges.
What This Test Detects
Our advanced NGS genetic testing specifically targets the CACNA1A gene to identify:
- CAG trinucleotide repeat expansions in exon 47 of the CACNA1A gene
- Pathogenic mutations responsible for spinocerebellar ataxia type 6
- Genetic variations affecting calcium channel function in cerebellar neurons
- Autosomal dominant inheritance patterns within families
- Specific repeat length variations that correlate with disease severity and age of onset
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Progressive gait instability and coordination difficulties
- Balance problems and frequent falls
- Slurred speech and dysarthria
- Nystagmus (involuntary eye movements)
- Fine motor skill deterioration
- Family history of ataxia or movement disorders
- Unexplained cerebellar atrophy on brain imaging
- Progressive neurological symptoms beginning in adulthood
Benefits of Genetic Testing
Undergoing CACNA1A genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SCA6 with high precision
- Family Planning: Enables informed reproductive decisions for at-risk individuals
- Prognostic Information: Helps predict disease progression and severity
- Treatment Guidance: Informs appropriate therapeutic interventions
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Clinical Trial Eligibility: May qualify patients for targeted research studies
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Detection of pathogenic CAG repeat expansion confirms SCA6 diagnosis
- Negative Result: No mutation detected, suggesting alternative causes for symptoms
- Intermediate Range: Repeat lengths that may not cause disease but require monitoring
- Variant of Uncertain Significance: Genetic changes requiring further investigation
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps. Our team of neurological genetic specialists will guide you through result interpretation and management recommendations.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | CACNA1A Gene Spinocerebellar Ataxia Type 6 Autosomal Dominant NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Neurological evaluation when indicated
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas 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
Early genetic diagnosis of spinocerebellar ataxia type 6 can significantly impact disease management and family planning decisions. Our CACNA1A genetic test provides the clarity needed to make informed healthcare choices and access appropriate support services.
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 understanding your neurological health with confidence and precision.
