SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test
Understanding SCA1 Genetic Testing
The SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the ATXN1 gene that cause Spinocerebellar Ataxia Type 1. This progressive neurodegenerative disorder affects the cerebellum and brainstem, leading to significant coordination and movement challenges. Our advanced molecular testing provides definitive answers for individuals and families affected by hereditary ataxia conditions.
What This Test Measures
This specialized genetic analysis detects abnormal CAG trinucleotide repeat expansions in the ATXN1 gene located on chromosome 6p22.3. The test specifically measures:
- CAG repeat length in the ATXN1 gene
- Presence of pathological repeat expansions (typically 39-83 repeats)
- Differentiation between normal alleles (6-44 repeats) and disease-causing expansions
- Anticipation patterns in familial cases
Who Should Consider SCA1 Testing?
This genetic test is recommended for individuals experiencing:
- Progressive coordination difficulties and balance problems
- Family history of spinocerebellar ataxia or unexplained neurological disorders
- Early-onset gait abnormalities and slurred speech
- Muscle stiffness, tremors, or involuntary eye movements
- Swallowing difficulties and progressive weakness
- Unexplained cognitive changes with motor symptoms
Clinical Indications for Testing
Healthcare providers typically recommend SCA1 testing when patients present with:
- Adult-onset progressive ataxia without clear cause
- Family history suggestive of autosomal dominant inheritance
- Neurological examination showing cerebellar signs
- MRI findings indicating cerebellar atrophy
- Differential diagnosis of hereditary ataxias
Benefits of SCA1 Genetic Testing
Undergoing SCA1 testing provides numerous advantages for patients and families:
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Helps neurologists develop personalized care plans
- Symptom Management: Allows for proactive management of anticipated symptoms
- Genetic Counseling: Facilitates informed family discussions and risk assessment
- Research Participation: Opens opportunities for clinical trial enrollment
Understanding Your Test Results
Our comprehensive results interpretation includes:
- Normal Range: 6-44 CAG repeats – no increased risk for SCA1
- Intermediate Alleles: 35-38 repeats – uncertain significance with potential risk
- Pathological Expansion: 39-83 repeats – diagnostic for SCA1
- Anticipation Notice: Information about potential expansion in offspring
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test – Discount Price | $74 |
| SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test – Regular Price | $82 |
Test Specifications
- Turnaround Time: 10-12 days
- Sample Type: 4 mL (2 mL min.) 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)
- Testing Method: PCR, Fragment Analysis
- Specialty: Neurology
- Department: Molecular Diagnostics
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary ataxia conditions affect your quality of life. Our SCA1 genetic testing provides the clarity needed to make informed healthcare decisions and plan for the future. With rapid 10-12 day turnaround and expert genetic counseling support, you can take proactive steps toward managing your neurological health.
Ready to schedule your SCA1 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk and securing your neurological future.
