ATXN3 Gene Spinocerebellar Ataxia Type 3 Autosomal Dominant NGS Genetic DNA Test
Understanding Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease, is a progressive neurological disorder that affects coordination, balance, and motor control. This autosomal dominant condition results from mutations in the ATXN3 gene located on chromosome 14q32.1. The ATXN3 gene provides instructions for producing ataxin-3 protein, which plays a crucial role in protein quality control within nerve cells.
What Does This Test Detect?
Our advanced NGS Genetic DNA Test specifically targets the ATXN3 gene to identify CAG trinucleotide repeat expansions, which are the primary genetic cause of SCA3. The test measures:
- CAG repeat length in the ATXN3 gene
- Presence of expanded repeats beyond normal range (typically >45 repeats)
- Genetic mutations associated with autosomal dominant inheritance
- Risk assessment for developing symptoms
Technical Methodology
Utilizing cutting-edge Next-Generation Sequencing (NGS) technology, our test provides comprehensive analysis of the ATXN3 gene with exceptional accuracy and reliability. This method allows for precise detection of repeat expansions and identification of any additional genetic variations that may contribute to disease manifestation.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive gait instability and coordination difficulties
- Speech problems including slurred or slow speech
- Muscle weakness and atrophy
- Involuntary eye movements (nystagmus)
- Difficulty with fine motor tasks
- Family history of ataxia or neurological disorders
- Unexplained balance problems in young to middle-aged adults
Genetic Counseling Importance
Before testing, we recommend genetic counseling to discuss family history, create a pedigree chart, and understand the implications of test results for both the individual and family members.
Benefits of ATXN3 Genetic Testing
- Accurate Diagnosis: Provides definitive diagnosis for individuals with unexplained neurological symptoms
- Early Intervention: Enables proactive management and treatment planning
- Family Planning: Informs reproductive decisions and risk assessment for future generations
- Prognostic Information: Helps predict disease progression and severity
- Clinical Trial Eligibility: Opens opportunities for participation in research studies
- Peace of Mind: Reduces uncertainty and provides clarity for affected families
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
Normal Results
Normal CAG repeat lengths (typically 12-44 repeats) indicate no increased risk for developing SCA3. However, genetic counseling is still recommended for comprehensive risk assessment.
Abnormal Results
Expanded CAG repeats (45 or more) confirm diagnosis of SCA3. The number of repeats often correlates with disease severity and age of onset. Our genetic counselors will provide detailed explanation and management recommendations.
Intermediate Results
Some individuals may have intermediate repeat lengths that require careful interpretation and ongoing monitoring.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ATXN3 Gene Spinocerebellar Ataxia Type 3 Autosomal Dominant NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Neurological Health
Early detection and accurate diagnosis of Spinocerebellar Ataxia Type 3 can significantly impact treatment outcomes and quality of life. Our expert team of neurologists and genetic specialists are committed to providing comprehensive care and support throughout your testing journey.
Ready to schedule your ATXN3 Genetic Test? Contact our genetic counseling team today to discuss your testing options and receive personalized guidance.
Book Your Test Today:
Call or WhatsApp: +1(267) 388-9828
Our genetic specialists are available to answer your questions and help you schedule your appointment at a location convenient for you.
