SACS Gene Spastic Ataxia Charlevoix-Saguenay Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neurological Disorders
The SACS Gene Spastic Ataxia Charlevoix-Saguenay Type NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, providing precise identification of mutations associated with autosomal recessive spastic ataxia. This sophisticated testing methodology utilizes next-generation sequencing technology to deliver accurate, reliable results for patients and families affected by this progressive neurological condition.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the SACS gene, which encodes the protein sacsin. Mutations in this gene are directly responsible for Charlevoix-Saguenay type spastic ataxia (ARSACS), a rare autosomal recessive neurodegenerative disorder. The test identifies:
- Point mutations and small insertions/deletions in the SACS gene
- Copy number variations affecting gene function
- Pathogenic variants associated with disease development
- Carrier status for family members
Who Should Consider This Genetic Testing
This specialized genetic test is recommended for individuals presenting with specific neurological symptoms or family history patterns:
- Patients experiencing progressive gait difficulties and balance problems
- Individuals with early-onset spasticity in lower limbs
- Those demonstrating cerebellar ataxia symptoms
- Patients with peripheral neuropathy manifestations
- Individuals with a family history of hereditary ataxia disorders
- Couples planning pregnancy with known family history of ARSACS
Key Clinical Benefits of SACS Gene Testing
Undergoing this comprehensive genetic analysis provides multiple significant advantages:
- Accurate Diagnosis: Confirms or rules out ARSACS with high precision
- Early Intervention: Enables proactive management strategies
- Family Planning Guidance: Provides essential information for reproductive decisions
- Treatment Direction: Helps guide appropriate therapeutic approaches
- Genetic Counseling: Supports informed family discussions about inheritance patterns
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our comprehensive reporting provides clear, actionable information:
- Positive Result: Indicates presence of pathogenic SACS gene mutations confirming ARSACS diagnosis
- Negative Result: Suggests absence of detectable mutations in the SACS gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Important information for family members and reproductive planning
All results are accompanied by detailed interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our SACS Gene Spastic Ataxia Charlevoix-Saguenay Type NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Contact our genetic counseling team today to schedule your test and begin your journey toward diagnostic clarity.
Call or WhatsApp: +1(267) 388-9828
Schedule your comprehensive genetic assessment and receive expert guidance from our neurological genetics specialists.
