SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test
Comprehensive Introduction to SCN8A Genetic Testing
The SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic analysis specifically targets mutations in the SCN8A gene, which encodes the sodium channel protein Nav1.6 crucial for proper neuronal function and signal transmission. Early infantile epileptic encephalopathy type 13 is a severe neurological disorder characterized by treatment-resistant seizures that typically manifest within the first months of life, often leading to developmental regression and significant neurological impairment.
This specialized test is particularly important because SCN8A-related disorders can present with variable clinical features, making accurate diagnosis challenging without genetic confirmation. The identification of SCN8A mutations enables precise diagnosis, informs treatment decisions, and provides critical information for family planning and genetic counseling.
What the Test Measures and Detects
Our comprehensive NGS-based genetic test specifically analyzes:
- Complete sequencing of the SCN8A gene to identify pathogenic variants
- Point mutations, insertions, deletions, and copy number variations
- Specific sodium channel dysfunction mutations affecting neuronal excitability
- Genetic markers associated with early-onset epileptic encephalopathy
- Variants that impact sodium channel gating properties and neuronal firing patterns
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing high-resolution analysis of the entire SCN8A gene with exceptional accuracy and reliability. This advanced methodology ensures comprehensive coverage of all coding regions and critical regulatory elements.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Treatment-resistant epilepsy unresponsive to conventional antiepileptic medications
- Developmental regression or stagnation following seizure onset
- Abnormal EEG patterns including multifocal spikes and hypsarrhythmia
- Movement disorders such as ataxia, dystonia, or chorea
- Cognitive impairment and intellectual disability
- Autistic features or behavioral abnormalities
- Family history of similar neurological conditions
Specific Clinical Scenarios
Healthcare providers should consider testing for infants with:
- Unexplained infantile spasms or myoclonic seizures
- Progressive neurological deterioration despite treatment
- Multiple seizure types that are difficult to control
- Suspected genetic epilepsy syndromes without confirmed diagnosis
Significant Benefits of SCN8A Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
Diagnostic Clarity and Precision
- Provides definitive molecular diagnosis for ambiguous clinical presentations
- Differentiates SCN8A-related disorders from other epileptic encephalopathies
- Enables accurate prognosis and natural history prediction
- Reduces diagnostic odyssey and unnecessary medical procedures
Treatment Optimization
- Guides selection of appropriate sodium channel blocking medications
- Helps avoid medications that may exacerbate symptoms
- Informs personalized treatment strategies based on specific mutation type
- Supports early intervention to minimize neurological damage
Family and Genetic Counseling
- Provides recurrence risk information for family planning
- Enables prenatal testing for future pregnancies
- Facilitates genetic counseling for extended family members
- Supports informed reproductive decision-making
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed interpretation of findings:
Positive Result
- Identification of a known pathogenic variant in the SCN8A gene confirms diagnosis
- Specific mutation information helps predict clinical severity and progression
- Results are correlated with established genotype-phenotype relationships
- Provides basis for targeted therapeutic approaches
Negative Result
- Absence of detectable SCN8A mutations suggests alternative diagnoses
- May indicate need for broader genetic testing for other epilepsy genes
- Does not completely rule out SCN8A-related disorder in all cases
- Clinical correlation remains essential for final diagnosis
Variant of Uncertain Significance (VUS)
- Novel genetic changes require additional clinical correlation
- Ongoing research may reclassify variants as more data becomes available
- Family studies may help determine variant significance
- Periodic re-evaluation of VUS results is recommended
Post-Test Guidance
All positive results include:
- Detailed consultation with board-certified genetic counselors
- Referral to appropriate neurological specialists
- Management recommendations based on specific mutation findings
- Resources for family support and patient advocacy groups
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurological Genetics |
Pre-Test Requirements and Preparation
Essential Documentation
- Complete clinical history of the patient including seizure characteristics
- Detailed neurological examination findings
- EEG reports and neuroimaging studies when available
- Family medical history with emphasis on neurological conditions
Genetic Counseling Session
- Mandatory pre-test genetic counseling with certified genetic counselors
- Development of comprehensive three-generation pedigree chart
- Discussion of test limitations, benefits, and potential outcomes
- Informed consent process explaining implications of genetic findings
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona and Southwest centers
- Philadelphia and Northeast testing sites
- Miami, Florida and Southeast locations
Our network of certified collection centers ensures accessible testing for families throughout the country, with coordinated sample transport and result delivery systems.
Take Action Today
Don’t let diagnostic uncertainty delay proper care for your child. Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Our team of neurological genetics specialists and certified genetic counselors are ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our compassionate staff will guide you through insurance verification, sample collection scheduling, and answer all your questions about the SCN8A genetic testing process.
Take the first step toward definitive diagnosis and personalized treatment planning. Book your SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test now and gain the clarity needed for optimal neurological care.
