Spinocerebellar Ataxia Comprehensive Profile Test
Understanding Spinocerebellar Ataxia Genetic Testing
The Spinocerebellar Ataxia Comprehensive Profile Test represents a breakthrough in neurological genetic diagnostics, offering comprehensive analysis of six critical genes associated with hereditary ataxia disorders. This advanced molecular diagnostic tool provides essential insights for patients experiencing progressive coordination difficulties and their healthcare providers.
What This Test Measures and Detects
Our comprehensive genetic profile specifically analyzes mutations in six key genes known to cause various forms of spinocerebellar ataxia:
- ATXN1 – Associated with SCA1, affecting coordination and speech
- ATXN2 – Linked to SCA2, impacting eye movements and coordination
- ATXN3 – Responsible for SCA3 (Machado-Joseph disease)
- ATXN7 – Connected to SCA7, affecting vision and coordination
- CACNA1A – Related to SCA6 and episodic ataxia type 2
- PPP2R2B – Associated with SCA12, affecting movement and cognition
Who Should Consider This Genetic Test
This comprehensive profile is recommended for individuals experiencing:
- Progressive difficulty with balance and coordination
- Unsteady gait and frequent stumbling
- Slurred speech or difficulty articulating words
- Involuntary eye movements (nystagmus)
- Family history of ataxia or neurological disorders
- Unexplained muscle stiffness or tremors
- Difficulty with fine motor tasks like writing or buttoning
Clinical Benefits of Genetic Testing
Undergoing the Spinocerebellar Ataxia Comprehensive Profile Test provides numerous advantages:
- Accurate Diagnosis: Confirms specific SCA subtype for targeted treatment
- Family Planning: Enables informed reproductive decisions
- Prognostic Information: Helps predict disease progression patterns
- Treatment Guidance: Informs appropriate therapeutic interventions
- Early Intervention: Facilitates timely management strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
Test Specifications and Requirements
Sample Collection and Processing
Sample Type: 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube
Shipping Instructions: Ship refrigerated. DO NOT FREEZE
Mandatory Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20)
Methodology and Technology
Our test utilizes state-of-the-art molecular diagnostic techniques including PCR and Fragment Analysis, ensuring high accuracy and reliability in detecting genetic mutations associated with spinocerebellar ataxia.
Understanding Your Test Results
Test results will provide clear information about genetic mutations detected in the six analyzed genes. Positive results indicate the presence of specific SCA-related mutations, while negative results suggest the absence of tested genetic variants. All results should be interpreted in consultation with a qualified neurologist or genetic counselor who can provide comprehensive clinical context and management recommendations.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Spinocerebellar Ataxia Comprehensive Profile Test | $350 USD | $450 USD |
Turnaround Time
Sample Submission: Tuesday by 11 AM
Report Availability: Saturday
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services nationwide.
Take Action for Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management of spinocerebellar ataxia. Contact our genetic specialists today to schedule your consultation and testing.
Call or WhatsApp: +1(267) 388-9828
Our experienced team is ready to answer your questions, explain the testing process, and help you take the next step toward understanding your neurological health. Book your comprehensive genetic profile today and gain valuable insights into your condition.
