SCA23 Spinocerebellar Ataxia PDYN Gene Mutation Test
Understanding SCA23 Spinocerebellar Ataxia
Spinocerebellar ataxia type 23 (SCA23) represents a rare autosomal dominant neurodegenerative disorder characterized by progressive impairment of coordination and balance. This hereditary condition results from specific mutations in the PDYN (prodynorphin) gene, which plays a crucial role in neuronal function and neurotransmitter regulation. The SCA23 PDYN Gene Mutation Test provides definitive genetic confirmation for individuals suspected of carrying this inherited neurological condition.
What Does the Test Measure?
This advanced molecular diagnostic test specifically analyzes the PDYN gene for pathogenic mutations known to cause spinocerebellar ataxia type 23. Through sophisticated PCR amplification and comprehensive DNA sequencing techniques, the test identifies:
- Point mutations in the PDYN gene coding regions
- Frameshift mutations affecting protein structure
- Missense mutations altering dynorphin peptide function
- Genetic variations associated with neurodegenerative pathways
Who Should Consider This Test?
This genetic test is particularly recommended for individuals displaying symptoms suggestive of cerebellar ataxia or those with family history of neurological disorders. Key indications include:
Symptomatic Individuals
- Progressive gait instability and coordination difficulties
- Unsteady walking pattern and frequent falls
- Slurred speech and dysarthria development
- Involuntary eye movements (nystagmus)
- Fine motor skill deterioration
- Cognitive changes and executive function impairment
At-Risk Populations
- Individuals with family history of spinocerebellar ataxia
- First-degree relatives of confirmed SCA23 patients
- Patients with unexplained cerebellar atrophy on imaging
- Those experiencing early-onset progressive ataxia
Benefits of SCA23 Genetic Testing
Undergoing the SCA23 PDYN Gene Mutation Test offers numerous advantages for patients and healthcare providers:
Diagnostic Clarity
Provides definitive molecular diagnosis, eliminating diagnostic uncertainty and enabling accurate disease classification. This precision allows neurologists to differentiate SCA23 from other forms of hereditary ataxia with similar clinical presentations.
Proactive Management
Early genetic identification facilitates timely intervention strategies, symptom management protocols, and comprehensive care planning. Patients can access appropriate rehabilitation services and supportive therapies before significant disability develops.
Family Planning Guidance
Genetic test results empower informed reproductive decisions and provide crucial information for genetic counseling. Families can understand inheritance patterns and assess risks for future generations.
Personalized Treatment Approaches
Specific genetic information enables neurologists to tailor therapeutic interventions and monitor disease progression more effectively. This personalized approach optimizes patient outcomes and quality of life.
Understanding Your Test Results
Positive Result Interpretation
A positive test result indicates the presence of a pathogenic PDYN gene mutation associated with SCA23. This confirmation enables:
- Definitive diagnosis and appropriate medical management
- Implementation of targeted symptomatic treatments
- Regular neurological monitoring and progression assessment
- Genetic counseling for family members
- Participation in clinical trials and research studies
Negative Result Interpretation
A negative result suggests the absence of known SCA23-associated PDYN mutations. However, clinical correlation remains essential, as other genetic or acquired causes of ataxia may require further investigation.
Variant of Uncertain Significance
In some cases, genetic variations of unknown clinical significance may be identified. These findings require careful interpretation by genetic specialists and may necessitate additional family studies for clarification.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $188 |
| Regular Price | $376 |
Test Specifications
- Turnaround Time: Sample Tuesday by 11 AM; Report Saturday
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube
- Shipping Instructions: Ship refrigerated. DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Testing Methodology: PCR, Sequencing
- Specialty: Neurologist
- Department: Molecular Diagnostics
- Disease Classification: Neurologic Disorder-Ataxia
Nationwide Testing Availability
General Genetics Corporation provides comprehensive SCA23 testing services across the United States. Our state-of-the-art molecular diagnostics facilities serve patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. The SCA23 Spinocerebellar Ataxia PDYN Gene Mutation Test offers clarity, empowerment, and the foundation for informed healthcare decisions. Our experienced genetic counselors and neurological specialists are ready to support you through every step of the testing process.
Ready to Schedule Your Test?
Take the first step toward definitive diagnosis and personalized care management. Contact our genetic testing specialists today to schedule your SCA23 PDYN Gene Mutation Test.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team will guide you through the testing process, answer your questions, and ensure you receive the comprehensive genetic insights needed for optimal neurological health management. Book your appointment today and gain the genetic clarity you deserve.
