SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Introduction to SPTBN2 Genetic Testing
The SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology provides critical insights into hereditary cerebellar ataxia disorders, specifically targeting mutations in the SPTBN2 gene that cause spinocerebellar ataxia type 5. As an autosomal dominant condition, SCA5 follows a clear inheritance pattern where affected individuals have a 50% chance of passing the mutation to their offspring. Early detection through this comprehensive genetic analysis enables proactive medical management and informed family planning decisions.
What This Advanced Genetic Test Measures
Our specialized NGS genetic DNA test meticulously examines the SPTBN2 gene for pathogenic variants associated with spinocerebellar ataxia type 5. The test specifically detects:
- Point mutations and small insertions/deletions in the SPTBN2 gene
- Autosomal dominant inheritance patterns characteristic of SCA5
- Genetic markers indicating progressive cerebellar degeneration
- Specific variants affecting beta-III spectrin protein function
- Mutation types including missense, nonsense, and frameshift variations
Who Should Consider SPTBN2 Genetic Testing
This comprehensive genetic test is particularly recommended for individuals experiencing:
- Progressive coordination difficulties and balance problems
- Family history of cerebellar ataxia or unexplained neurological disorders
- Early-onset gait abnormalities and limb coordination issues
- Speech difficulties or dysarthria developing in adulthood
- Eye movement abnormalities including nystagmus
- Individuals planning pregnancy with known family history of SCA5
Significant Benefits of SPTBN2 Genetic Testing
Undergoing SPTBN2 genetic testing provides numerous advantages for patients and families:
- Early and accurate diagnosis of spinocerebellar ataxia type 5
- Clear understanding of inheritance patterns for family planning
- Opportunity for proactive symptom management and treatment planning
- Reduction of diagnostic uncertainty and unnecessary medical procedures
- Access to specialized neurological care and support resources
- Psychological relief from diagnostic ambiguity
- Foundation for personalized therapeutic approaches
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your SPTBN2 test results effectively:
- Positive Result: Indicates presence of SPTBN2 mutation; enables proactive management and family screening
- Negative Result: No detected mutation; significantly reduces SCA5 risk but doesn’t eliminate other neurological conditions
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- All results include detailed genetic counseling to ensure complete understanding
- Follow-up testing recommendations based on individual findings
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized neurology genetics departments in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other locations. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. Our SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant NGS Genetic DNA Test provides the clarity and confidence you need for informed health decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood drops, accessing this crucial genetic information has never been more convenient.
Schedule your genetic counseling session and test appointment today by calling our dedicated genetics specialists at +1(267) 388-9828 or book online through our secure patient portal. Take the first step toward understanding your neurological health and securing your family’s genetic future.
