AFG3L2 Gene Spinocerebellar Ataxia Type 28 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neurological Disorders
The AFG3L2 Gene Spinocerebellar Ataxia Type 28 Autosomal Dominant NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with spinocerebellar ataxia type 28. This progressive neurodegenerative disorder affects the cerebellum and spinal cord, leading to significant impairment in coordination, balance, and motor function. Our advanced testing methodology provides definitive answers for individuals and families affected by this hereditary condition.
What Does This Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the AFG3L2 gene for pathogenic variants responsible for spinocerebellar ataxia type 28. The test specifically detects:
- Autosomal dominant mutations in the AFG3L2 gene
- Point mutations, insertions, and deletions affecting gene function
- Variants that disrupt mitochondrial protein quality control mechanisms
- Genetic changes impacting cerebellar Purkinje cell integrity
- Hereditary patterns consistent with autosomal dominant inheritance
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing neurological symptoms or with family history suggestive of spinocerebellar ataxia:
- Patients presenting with progressive gait ataxia and coordination difficulties
- Individuals with unexplained balance problems and frequent falls
- Those experiencing slurred speech (dysarthria) and eye movement abnormalities
- Patients with family history of hereditary ataxia or neurological degeneration
- Individuals seeking genetic counseling for family planning purposes
- Patients with early-onset cerebellar symptoms without clear diagnosis
Key Benefits of Genetic Testing
Undergoing the AFG3L2 genetic test provides numerous advantages for patients and their families:
- Definitive Diagnosis: Obtain clear answers about the genetic basis of neurological symptoms
- Early Intervention: Enable timely management strategies and treatment planning
- Family Planning: Make informed reproductive decisions with genetic counseling
- Prognostic Information: Understand disease progression and potential complications
- Research Participation: Contribute to advancing understanding of neurological disorders
- Peace of Mind: Reduce uncertainty and anxiety through genetic clarification
Understanding Your Test Results
Genetic test results require careful interpretation by qualified medical professionals:
- Positive Result: Indicates presence of AFG3L2 mutation; confirms SCA28 diagnosis and enables targeted management
- Negative Result: Suggests absence of tested AFG3L2 mutations; may require additional neurological evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact; requires ongoing monitoring
- Carrier Status: Important for family members considering genetic testing and reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | AFG3L2 Gene Spinocerebellar Ataxia Type 28 Autosomal Dominant NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Preparation Requirements
Proper preparation ensures accurate test results and meaningful interpretation:
- Complete clinical history documentation of neurological symptoms
- Genetic counseling session to discuss testing implications and expectations
- Development of detailed pedigree chart documenting affected family members
- Discussion of potential psychological and emotional impacts of results
- Informed consent process explaining benefits, limitations, and privacy considerations
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 genetic counselors and neurological specialists ensures you receive expert guidance throughout the testing process.
Take Control of Your Neurological Health
Early genetic testing for spinocerebellar ataxia type 28 can provide critical information for managing neurological health and making informed family decisions. Our specialized team combines cutting-edge NGS technology with compassionate patient care to deliver accurate, reliable genetic testing results.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and planning for the future.
