NOP56 Gene Spinocerebellar Ataxia Type 36 Autosomal Dominant NGS Genetic DNA Test

Understanding Spinocerebellar Ataxia Type 36

Spinocerebellar ataxia type 36 (SCA36) is a rare, progressive neurological disorder that affects coordination, balance, and motor function. This autosomal dominant condition results from specific mutations in the NOP56 gene, which plays a crucial role in RNA processing and cellular function. Our advanced NGS genetic DNA test provides comprehensive analysis to detect these mutations, offering valuable insights for diagnosis and management.

What This Test Measures and Detects

This sophisticated genetic test specifically targets the NOP56 gene using Next-Generation Sequencing technology to identify:

• Hexanucleotide repeat expansions in the NOP56 gene
• Specific GGCCTG repeat mutations characteristic of SCA36
• Genetic variations that disrupt normal cerebellar function
• Inherited mutations passed through autosomal dominant patterns

Who Should Consider This Test

Individuals Experiencing Symptoms

This test is particularly important for people displaying:

• Progressive coordination difficulties and balance problems
• Slurred speech and articulation challenges
• Muscle weakness and tremors
• Difficulty with fine motor skills
• Gait abnormalities and unsteady walking
• Eye movement abnormalities

Family History Considerations

Genetic testing is recommended for:

• Individuals with family history of spinocerebellar ataxia
• First-degree relatives of diagnosed SCA36 patients
• Those planning pregnancy with ataxia family history
• Individuals seeking pre-symptomatic testing

Benefits of Genetic Testing

Undergoing NOP56 gene testing provides numerous advantages:

• Early Diagnosis: Enables prompt intervention and management strategies
• Family Planning: Provides crucial information for reproductive decisions
• Personalized Care: Helps tailor treatment approaches to individual needs
• Peace of Mind: Reduces uncertainty about genetic status
• Research Contribution: Advances understanding of rare neurological conditions

Understanding Your Test Results

Our genetic counseling team provides comprehensive interpretation of your results:

• Positive Result: Indicates presence of NOP56 mutation; enables proactive management and family planning
• Negative Result: No mutation detected; provides reassurance for individuals at risk
• Variant of Uncertain Significance: Requires additional evaluation and possible family testing

All results include detailed genetic counseling to ensure complete understanding and appropriate next steps.

Test Pricing and Details

Pre-Test Requirements

To ensure accurate testing and comprehensive care:

• Complete clinical history documentation
• Genetic counseling session with our specialists
• Family pedigree chart development
• Informed consent process

Nationwide Accessibility

We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services wherever you are located.

Take Control of Your Neurological Health

Early detection of spinocerebellar ataxia type 36 can significantly impact treatment outcomes and quality of life. Our specialized genetic testing provides the clarity needed to make informed healthcare decisions and plan for the future with confidence.