SCA Spinocerebellar Ataxia Profile Any 4 Markers Test
Comprehensive Genetic Testing for Hereditary Ataxia Disorders
The SCA Spinocerebellar Ataxia Profile Any 4 Markers Test represents a cutting-edge diagnostic approach for identifying inherited neurological conditions that affect coordination and movement. Spinocerebellar ataxias (SCAs) comprise a group of progressive neurodegenerative disorders characterized by degeneration of the cerebellum and its connections, leading to significant impairment in motor coordination, balance, and speech.
What This Test Measures and Detects
This specialized genetic profile examines four carefully selected markers from the following options:
- ATXN1 – Associated with SCA1
- ATXN2 – Linked to SCA2
- ATXN3 – Identifies SCA3 (Machado-Joseph disease)
- CACNA1A – Related to SCA6 and episodic ataxia type 2
- ATXN7 – Connected to SCA7
- PPP2R2B – Associated with SCA12
The test utilizes sophisticated PCR and fragment analysis methodologies to detect specific genetic mutations and expansions that cause various forms of spinocerebellar ataxia. This molecular diagnostic approach provides precise identification of abnormal CAG trinucleotide repeat expansions, which are the hallmark genetic abnormalities in most SCAs.
Who Should Consider This Test
This genetic profile is particularly recommended for individuals experiencing:
- Unexplained progressive balance and coordination difficulties
- Family history of ataxia or similar neurological conditions
- Speech abnormalities including slurred or scanning speech
- Eye movement disorders such as nystagmus
- Progressive difficulty with fine motor tasks
- Gait disturbances and frequent falls
- Muscle stiffness or spasticity
- Cognitive changes accompanying movement disorders
Significant Benefits of Testing
Undergoing the SCA Spinocerebellar Ataxia Profile offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of specific SCA subtypes
- Early Intervention: Enables timely treatment and management strategies
- Family Planning: Offers crucial information for genetic counseling
- Prognostic Insight: Helps predict disease progression and severity
- Treatment Guidance: Informs targeted therapeutic approaches
- Peace of Mind: Resolves diagnostic uncertainty for patients and families
Understanding Your Test Results
Test results are carefully interpreted by our team of neurological genetics specialists:
- Normal Results: Indicate no detected mutations in the tested markers
- Positive Results: Confirm specific SCA subtype with identified genetic mutation
- Intermediate Results: May indicate premutation status requiring follow-up
- Inconclusive Results: May necessitate additional testing or family studies
All positive results include comprehensive genetic counseling to help patients and families understand the implications, inheritance patterns, and available management options.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SCA Spinocerebellar Ataxia Profile Any 4 Markers Test | $250 USD | $376 USD |
Convenient Testing Process
Our testing process is designed for patient convenience and accuracy:
- Sample Collection: 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube
- Shipping: Ship refrigerated – DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20)
- Turnaround Time: Sample by Tuesday 11 AM, Results by Saturday
Nationwide Accessibility
We maintain comprehensive testing facilities across major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to this specialized neurological testing regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The SCA Spinocerebellar Ataxia Profile provides the clarity needed for proper diagnosis and management. Our team of neurological specialists and genetic counselors are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic counseling team. Take the first step toward understanding your neurological health with confidence and precision.
