SCA2 Spinocerebellar Ataxia ATXN2 Gene Mutation Test
Understanding SCA2 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 2 (SCA2) is an inherited neurological disorder characterized by progressive degeneration of the cerebellum and brainstem. This autosomal dominant condition results from abnormal CAG trinucleotide repeat expansions in the ATXN2 gene on chromosome 12. The SCA2 ATXN2 Gene Mutation Test represents a crucial diagnostic advancement in neurological genetics, providing definitive identification of this hereditary condition that affects coordination, balance, and motor control.
What Does the Test Detect?
Our advanced genetic testing specifically analyzes the ATXN2 gene for abnormal CAG trinucleotide repeat expansions. In healthy individuals, the ATXN2 gene typically contains 14-31 CAG repeats. However, in SCA2 patients, this number expands to 35-64 repeats, leading to the production of abnormal ataxin-2 protein that accumulates in nerve cells and causes progressive neurological damage.
Key Test Components:
- ATXN2 Gene Analysis
- CAG Repeat Expansion Detection
- Mutation Size Determination
- Genetic Confirmation of SCA2 Diagnosis
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing neurological symptoms or those with family history of ataxia disorders. Specific indications include:
Symptomatic Individuals:
- Progressive difficulty with balance and coordination
- Unsteady gait and frequent stumbling
- Slurred speech and dysarthria
- Involuntary eye movements (nystagmus)
- Muscle weakness and atrophy
- Tremors and difficulty with fine motor tasks
At-Risk Populations:
- Family history of spinocerebellar ataxia
- Known SCA2 carriers in the family
- Individuals planning pregnancy with ataxia family history
- Unexplained neurological symptoms in young adults
Benefits of SCA2 Genetic Testing
Undergoing the SCA2 ATXN2 Gene Mutation Test provides numerous advantages for patients and healthcare providers:
Diagnostic Clarity:
- Definitive diagnosis of SCA2 versus other ataxia types
- Elimination of diagnostic uncertainty
- Accurate prognosis based on repeat expansion size
- Early intervention and treatment planning
Family Planning Guidance:
- Understanding inheritance patterns
- Reproductive decision-making support
- Prenatal testing options
- Genetic counseling opportunities
Clinical Management:
- Personalized treatment strategies
- Symptom management planning
- Proactive healthcare monitoring
- Access to specialized neurological care
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with professional interpretation:
Normal Results:
Normal ATXN2 alleles contain 14-31 CAG repeats. Individuals with results in this range do not carry the SCA2 mutation and are not at risk for developing this specific form of hereditary ataxia.
Intermediate Alleles:
Alleles with 32-34 CAG repeats may represent intermediate or reduced penetrance alleles. These individuals may have minimal symptoms or be at risk for developing late-onset disease.
Positive Results:
Expanded alleles with 35 or more CAG repeats confirm SCA2 diagnosis. The specific repeat number helps predict disease severity and progression timeline, with larger expansions typically associated with earlier onset and more rapid progression.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SCA2 Spinocerebellar Ataxia ATXN2 Gene Mutation Test |
| Discount Price | $124 USD |
| Regular Price | $156 USD |
| Turnaround Time | Sample by Tuesday 11 AM, Report by Saturday |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Methodology | PCR, Fragment Analysis |
Sample Collection Requirements
For accurate testing, please ensure proper sample collection and submission:
- 4 mL minimum whole blood in EDTA tube (lavender top)
- Ship refrigerated – DO NOT FREEZE samples
- Complete Genomics Clinical Information Requisition Form (Form 20)
- Include relevant clinical history and family information
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health
Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life for individuals with hereditary ataxia disorders. Our SCA2 ATXN2 Gene Mutation Test provides the definitive answers needed for proper medical management and family planning decisions.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
Don’t let uncertainty about neurological symptoms affect your quality of life. Take the first step toward clarity and comprehensive care with our advanced SCA2 genetic testing services.
