SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infant Epilepsy
The SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics, offering families and healthcare providers critical insights into one of the most challenging neurological conditions affecting infants. This advanced genetic test specifically targets mutations in the SCN2A gene, which encodes the sodium channel protein Nav1.2 crucial for proper neuronal function and brain development.
What This Revolutionary Test Detects
Our state-of-the-art NGS technology precisely identifies pathogenic variants in the SCN2A gene that are responsible for Early Infantile Epileptic Encephalopathy Type 11 (EIEE11). This condition represents a spectrum of severe epileptic disorders characterized by:
- Missense mutations affecting sodium channel function
- Frameshift and nonsense mutations leading to protein truncation
- Splice site variants disrupting normal gene expression
- Copy number variations affecting gene dosage
Who Should Consider This Critical Genetic Test?
This specialized genetic test is essential for infants and children presenting with specific neurological symptoms that may indicate SCN2A-related disorders:
Primary Clinical Indications
- Infants experiencing seizure onset within the first 3 months of life
- Children with treatment-resistant epilepsy unresponsive to standard medications
- Patients exhibiting developmental regression or stagnation
- Infants with abnormal EEG patterns suggestive of epileptic encephalopathy
- Children with movement disorders or autistic features alongside seizures
- Patients with family history of similar neurological conditions
Key Symptom Patterns
Early recognition of SCN2A-related disorders is crucial. Watch for these hallmark symptoms:
- Focal seizures progressing to generalized seizures
- Epileptic spasms or myoclonic jerks
- Developmental plateau or loss of acquired skills
- Hypotonia (reduced muscle tone) or hypertonia
- Visual tracking difficulties or poor eye contact
- Feeding difficulties and gastrointestinal issues
Transformative Benefits of Early Genetic Diagnosis
Personalized Treatment Strategies
Identifying SCN2A mutations enables neurologists to implement targeted therapeutic approaches. Sodium channel blockers like carbamazepine or oxcarbazepine often show remarkable efficacy in SCN2A-positive patients, potentially reducing seizure frequency and improving developmental outcomes.
Family Planning and Genetic Counseling
A confirmed genetic diagnosis provides families with essential information for future family planning decisions. Our genetic counseling services help families understand inheritance patterns, recurrence risks, and available reproductive options.
Comprehensive Care Coordination
Early diagnosis facilitates coordinated care across multiple specialties including neurology, genetics, developmental pediatrics, and rehabilitation services, ensuring comprehensive management of this complex condition.
Understanding Your Genetic Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic or likely pathogenic variant in the SCN2A gene. This confirmation enables:
- Precise diagnosis and elimination of diagnostic uncertainty
- Implementation of genotype-specific treatment protocols
- Access to specialized resources and support networks
- Eligibility for clinical trials and emerging therapies
Negative Result Considerations
A negative result doesn’t completely rule out genetic causes, as some mutations may not be detectable by current methods or may involve other genes. Further testing or clinical follow-up may be recommended based on individual circumstances.
Variant of Uncertain Significance (VUS)
Some results may identify genetic changes with unclear clinical implications. Our genetic counseling team provides comprehensive guidance on VUS results and recommends appropriate follow-up strategies.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Nationwide Accessibility and Support
We maintain comprehensive genetic testing facilities across major metropolitan areas throughout the United States, ensuring convenient access to this critical diagnostic service. Our network includes specialized centers in:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest territories
- Houston and Texas Gulf Coast
- Phoenix and Southwest districts
- Multiple additional locations nationwide
Take the First Step Toward Answers
Don’t let diagnostic uncertainty delay appropriate care for your child. Our expert team of genetic counselors and neurologists is ready to guide you through the testing process and help interpret results within the context of your child’s specific clinical presentation.
Schedule your genetic consultation today by calling our dedicated neurology genetics line at +1(267) 388-9828 or book your appointment online through our secure patient portal.
Early genetic diagnosis can make a profound difference in treatment outcomes and quality of life for children affected by SCN2A-related disorders. Our commitment to excellence in genetic testing ensures you receive the most accurate, comprehensive, and clinically relevant information to guide your child’s care journey.
