SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Epilepsy Disorders
The SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SCN1A gene that cause Dravet syndrome and related severe epilepsy conditions. This advanced genetic analysis provides crucial diagnostic clarity for infants and children experiencing treatment-resistant seizures and developmental challenges.
What is SCN1A Gene Testing?
The SCN1A gene encodes the sodium channel protein Nav1.1, which plays a critical role in proper neuronal function and signal transmission in the brain. Mutations in this gene disrupt normal sodium channel activity, leading to hyperexcitability of neurons and resulting in severe, often treatment-resistant epilepsy. Early Infantile Epileptic Encephalopathy Type 6, commonly known as Dravet syndrome, is characterized by prolonged seizures triggered by fever, developmental regression, and various neurological complications.
What This Test Detects
Our comprehensive NGS-based analysis examines the entire SCN1A gene to identify:
- Missense mutations affecting sodium channel function
- Nonsense mutations causing premature protein termination
- Frameshift mutations disrupting gene reading frames
- Splice site mutations affecting RNA processing
- Deletion and duplication variants
- Novel pathogenic variants not previously documented
Advanced Next-Generation Sequencing Technology
Utilizing state-of-the-art Next-Generation Sequencing (NGS) technology, our test provides unparalleled accuracy in detecting SCN1A mutations. This method sequences the entire gene with high coverage, ensuring comprehensive analysis of all coding regions and critical regulatory elements. The technology’s sensitivity allows detection of even low-level mosaic mutations that might be missed by conventional methods.
Who Should Consider This Test?
This genetic test is recommended for infants and children presenting with:
- Prolonged febrile seizures beginning in infancy
- Multiple seizure types including myoclonic, absence, or focal seizures
- Developmental regression or plateau following seizure onset
- Treatment-resistant epilepsy despite multiple antiepileptic medications
- Family history of epilepsy or sudden unexplained death in epilepsy (SUDEP)
- Abnormal EEG patterns consistent with Dravet syndrome
- Ataxia, movement disorders, or behavioral abnormalities
Early Diagnosis Importance
Early genetic diagnosis of SCN1A-related disorders is crucial for several reasons. It enables appropriate treatment selection, as certain antiepileptic drugs can worsen seizures in Dravet syndrome. Early intervention with appropriate therapies can significantly improve developmental outcomes and quality of life. Genetic confirmation also provides families with accurate recurrence risk information for future pregnancies.
Benefits of SCN1A Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic evidence for Dravet syndrome or related disorders
- Treatment Guidance: Informs medication choices and helps avoid harmful treatments
- Prognostic Information: Helps predict disease course and potential complications
- Family Planning: Enables accurate genetic counseling for recurrence risks
- Early Intervention: Facilitates timely implementation of appropriate therapies
- Research Opportunities: Connects families with clinical trials and research studies
- Psychological Relief: Provides answers and reduces diagnostic uncertainty
Comprehensive Genetic Counseling
Our testing process includes pre-test genetic counseling to help families understand the implications of testing, draw detailed family pedigrees, and discuss potential outcomes. Post-test counseling ensures proper interpretation of results and provides guidance for next steps in management and family planning.
Understanding Your Test Results
Your genetic test results will fall into one of several categories, each with specific implications:
Positive Result
A positive result indicates the presence of a pathogenic SCN1A mutation consistent with Early Infantile Epileptic Encephalopathy Type 6. This confirms the genetic diagnosis and provides important information for treatment planning and family counseling.
Negative Result
A negative result means no pathogenic SCN1A mutations were detected. However, this does not completely rule out the possibility of an SCN1A-related disorder, as some mutations may be in non-coding regions or represent mosaic cases not detected in the sample.
Variant of Uncertain Significance (VUS)
Some results may identify genetic changes whose clinical significance is currently unknown. In such cases, additional family studies or research may be recommended to clarify the variant’s impact.
Result Interpretation Guidance
- All results are reviewed by board-certified geneticists and neurologists
- Detailed reports include clinical correlation and management recommendations
- Follow-up testing options are discussed based on results
- Ongoing support is available for result interpretation and clinical management
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6 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 | Neurology and Genetics |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Convenient Sample Collection
Sample collection is simple and can be performed at any of our nationwide locations or through our mobile phlebotomy services. We offer multiple sample options to accommodate patient needs, including traditional blood draws, extracted DNA samples, or convenient FTA card collection requiring only a single drop of blood.
Take the Next Step Toward Answers
If your child is experiencing symptoms consistent with SCN1A-related disorders, don’t wait to get answers. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Our team of genetic specialists is ready to help you navigate this important diagnostic journey.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book the SCN1A Gene Test. Our genetic counselors are available to answer your questions and guide you through the testing process.
With our comprehensive approach including pre-test genetic counseling, advanced NGS technology, and expert result interpretation, you can trust General Genetics Corporation to provide the accurate genetic information you need for informed medical decisions and family planning.
