Spinocerebellar Ataxia Extended Profile Test
Comprehensive Genetic Testing for Hereditary Ataxia Disorders
The Spinocerebellar Ataxia Extended Profile Test represents a cutting-edge advancement in neurological genetic diagnostics. This comprehensive screening evaluates multiple genetic markers associated with spinocerebellar ataxias (SCAs), a group of inherited neurological disorders characterized by progressive deterioration of coordination and balance. Our extended profile provides the most thorough genetic assessment available for patients presenting with ataxia symptoms or those with family history of neurological conditions.
What This Test Measures and Detects
Our advanced molecular diagnostic test utilizes PCR and fragment analysis to screen for mutations across 14 critical genetic loci:
- SCA1 – Spinocerebellar ataxia type 1
- SCA2 – Spinocerebellar ataxia type 2
- SCA3 – Machado-Joseph disease
- SCA5 – Spinocerebellar ataxia type 5
- SCA6 – Spinocerebellar ataxia type 6
- SCA7 – Spinocerebellar ataxia type 7 with retinal degeneration
- SCA8 – Spinocerebellar ataxia type 8
- SCA11 – Spinocerebellar ataxia type 11
- SCA12 – Spinocerebellar ataxia type 12
- SCA14 – Spinocerebellar ataxia type 14
- SCA17 – Spinocerebellar ataxia type 17
- SCA23 – Spinocerebellar ataxia type 23
- DRPLA – Dentatorubral-pallidoluysian atrophy
- FXTAS – Fragile X-associated tremor/ataxia syndrome
Who Should Consider This Test
This comprehensive genetic screening is recommended for individuals experiencing:
- Progressive coordination difficulties and balance problems
- Unsteady gait and frequent stumbling
- Slurred speech or dysarthria
- Involuntary eye movements (nystagmus)
- Difficulty with fine motor tasks
- Family history of neurological disorders or ataxia
- Unexplained progressive neurological symptoms
- Patients undergoing neurological evaluation for movement disorders
Clinical Benefits of Genetic Testing
Early and accurate genetic diagnosis through our extended SCA profile offers numerous advantages:
- Precise Diagnosis: Differentiate between various types of hereditary ataxias
- Treatment Guidance: Inform targeted therapeutic approaches and management strategies
- Prognostic Information: Understand disease progression and expected clinical course
- Family Planning: Provide genetic counseling for family members
- Clinical Trial Eligibility: Identify patients suitable for emerging treatments
- Peace of Mind: Resolve diagnostic uncertainty and provide clear answers
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your neurological health:
- Positive Result: Indicates the presence of a pathogenic mutation associated with specific SCA type
- Negative Result: No disease-causing mutations detected in the tested genes
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying genetic mutations without symptoms
All results are accompanied by detailed interpretation from our board-certified neurologists and genetic counselors. We provide comprehensive guidance on next steps, treatment options, and family screening recommendations.
Test Pricing and Scheduling
| Test Description | Regular Price | Discount Price |
|---|---|---|
| Spinocerebellar Ataxia Extended Profile Test | $1126 USD | $800 USD |
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 for neurological disorders nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our Spinocerebellar Ataxia Extended Profile Test provides the comprehensive genetic information needed for accurate diagnosis and personalized treatment planning. With rapid turnaround times (sample by Tuesday 11 AM, results by Saturday) and expert genetic counseling support, we make advanced neurological genetic testing accessible and understandable.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward clarity and comprehensive neurological care.
