SCA14 Spinocerebellar Ataxia PRKCG Gene Mutation Test
Comprehensive Genetic Testing for Hereditary Ataxia
The SCA14 Spinocerebellar Ataxia PRKCG Gene Mutation Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the PRKCG gene that cause Spinocerebellar Ataxia Type 14. This progressive neurodegenerative disorder affects the cerebellum and spinal cord, leading to significant coordination and movement challenges. Our advanced molecular testing provides definitive answers for patients and families affected by unexplained neurological symptoms.
What Does This Test Detect?
This specialized genetic test focuses exclusively on the PRKCG (Protein Kinase C Gamma) gene, which plays a critical role in cerebellar function and neuronal signaling. The test identifies:
- Pathogenic mutations in the PRKCG gene coding regions
- Specific nucleotide variations associated with SCA14
- Autosomal dominant inheritance patterns
- Genetic markers for progressive cerebellar degeneration
Advanced Molecular Methodology
Our laboratory utilizes state-of-the-art PCR amplification and DNA sequencing technologies to ensure the highest accuracy in mutation detection. The comprehensive analysis covers all exons and flanking regions of the PRKCG gene, providing complete genetic profiling for SCA14 diagnosis.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive balance and coordination difficulties
- Unexplained gait abnormalities or stumbling
- Family history of neurological disorders or ataxia
- Early-onset movement disorders
- Speech difficulties or dysarthria
- Eye movement abnormalities (nystagmus)
- Tremors or involuntary movements
- Muscle stiffness or spasticity
Clinical Indications
Neurologists frequently recommend this test for patients presenting with cerebellar symptoms without clear etiology, individuals with family history of autosomal dominant ataxia, or those requiring differential diagnosis between various spinocerebellar ataxia subtypes.
Benefits of SCA14 Genetic Testing
- Accurate Diagnosis: Provides definitive identification of SCA14, eliminating diagnostic uncertainty
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Offers insights into disease progression and expected symptoms
- Early Intervention: Facilitates timely therapeutic interventions and symptom management
- Psychological Relief: Reduces anxiety by providing clear answers about neurological symptoms
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the PRKCG gene, confirming the diagnosis of Spinocerebellar Ataxia Type 14. This information enables:
- Confirmation of clinical diagnosis
- Family member testing recommendations
- Specialized neurological care planning
- Access to SCA14-specific support resources
Negative Result
A negative result suggests that PRKCG gene mutations were not detected, indicating that SCA14 is unlikely to be the cause of symptoms. However, your neurologist may recommend additional testing for other ataxia subtypes or neurological conditions.
Variant of Uncertain Significance
In some cases, genetic variations of unknown clinical significance may be identified. Our genetic counselors provide comprehensive guidance on these findings and recommend appropriate follow-up testing or monitoring.
Test Information and Pricing
| Test Component | Price Information |
|---|---|
| SCA14 Spinocerebellar Ataxia PRKCG Gene Mutation Test |
Discount Price: $188 USD |
| Turnaround Time | 10-12 days |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Methodology | PCR, Sequencing |
| Specialty | Neurology, Molecular Diagnostics |
Sample Collection Requirements
Proper sample collection is essential for accurate results. Please ensure:
- Blood collection in appropriate EDTA tubes
- Refrigerated shipment (DO NOT FREEZE)
- Completed Genomics Clinical Information Requisition Form (Form 20)
- Proper patient identification and labeling
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms create uncertainty in your life. The SCA14 PRKCG Gene Mutation Test provides the clarity needed for proper diagnosis and management of hereditary ataxia conditions. Our expert team of genetic counselors and neurologists are available to support you throughout the testing process and beyond.
Ready to Schedule Your Test?
Take the first step toward definitive answers about your neurological health. Contact our genetic testing specialists today to schedule your SCA14 Spinocerebellar Ataxia PRKCG Gene Mutation Test.
Call or WhatsApp: +1(267) 388-9828
Our compassionate team is ready to assist you with test scheduling, insurance questions, and any concerns you may have about genetic testing for neurological disorders. Early diagnosis leads to better management and improved quality of life for individuals with hereditary ataxia conditions.
