Nx Gen Sequencing Dravet Syndrome and Early Infantile Epileptic Encephalopathy Test
Comprehensive Genetic Testing for Severe Childhood Epilepsy Disorders
The Nx Gen Sequencing Dravet Syndrome and Early Infantile Epileptic Encephalopathy Test represents a breakthrough in pediatric neurology diagnostics. This advanced genetic screening utilizes cutting-edge next-generation sequencing technology to identify mutations responsible for severe epileptic encephalopathies that typically manifest in infancy and early childhood. Early and accurate diagnosis is crucial for implementing appropriate treatment strategies and improving long-term outcomes for affected children.
What This Revolutionary Test Detects
Our comprehensive panel analyzes 16 critical genes associated with Dravet Syndrome and Early Infantile Epileptic Encephalopathy (EIEE):
- SCN1A, SCN2A, SCN8A, SCN9A – Sodium channel genes crucial for neuronal function
- CDKL5, ARX, STXBP1 – Key regulators of brain development and synaptic transmission
- KCNQ2, KCNT1 – Potassium channel genes affecting neuronal excitability
- GABRG2, PCDH19, PNKP, PLCB1 – Additional epilepsy-associated genes
- ARHGEF9, SLC25A22, SPTAN1 – Genes involved in neuronal structure and metabolism
Who Should Consider This Genetic Testing?
This test is specifically recommended for infants and children presenting with:
- Treatment-resistant seizures beginning in the first year of life
- Developmental regression or stagnation following seizure onset
- Febrile seizures that progress to more complex seizure types
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of epilepsy or sudden unexplained death in childhood
- Developmental delays accompanied by movement disorders
- Poor response to standard anti-epileptic medications
Critical Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis provides numerous advantages for patients and families:
- Targeted Treatment Planning – Specific genetic findings can guide medication selection and avoid ineffective treatments
- Prognostic Information – Understanding the genetic basis helps predict disease course and potential complications
- Family Planning Guidance – Identifies inheritance patterns and recurrence risks for future pregnancies
- Early Intervention – Enables prompt implementation of appropriate therapies and support services
- Clinical Trial Eligibility – Opens doors to emerging treatments and research opportunities
- Reduced Diagnostic Odyssey – Minimizes unnecessary testing and medical visits
Understanding Your Test Results
Our comprehensive report provides clear, clinically actionable information:
- Pathogenic Variants – Clearly identified disease-causing mutations with clinical significance
- Variant Classification – Detailed explanation of genetic findings using established guidelines
- Clinical Correlation – How specific genetic changes relate to observed symptoms
- Management Recommendations – Evidence-based guidance for treatment and monitoring
- Genetic Counseling Referral – When appropriate, recommendations for specialized genetic services
- Family Testing Options – Information about testing available for relatives
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Nx Gen Sequencing Dravet Syndrome and Early Infantile Epileptic Encephalopathy Test | $650 |
| Discount Price | $586 |
Nationwide Accessibility and Convenient Testing
We maintain comprehensive testing facilities across the United States, with branches 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 streamlined process ensures:
- Convenient sample collection locations nationwide
- Expert phlebotomy services for pediatric patients
- Rapid sample processing with daily cut-off at 9:00 AM
- Results delivered within 40 working days
- Secure online portal for result access
- Genetic counseling support when needed
Sample Requirements and Preparation
For accurate testing, please ensure proper sample collection:
- Sample Type: 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
- Shipping: Refrigerated transport – DO NOT FREEZE
- Mandatory Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37)
- Turnaround Time: Sample accepted daily by 9:00 AM; Reports in 40 working days
Take the First Step Toward Clarity
Don’t let uncertainty about your child’s neurological symptoms continue. Early genetic diagnosis can transform treatment approaches and improve quality of life. Our team of neurological genetics specialists is ready to help you navigate this important diagnostic journey.
Call us today at +1(267) 388-9828 to schedule your test or speak with our genetic counseling team. We’re available to answer your questions and help you understand the testing process, insurance coverage, and what to expect from your results.
Early intervention begins with accurate diagnosis. Book your Nx Gen Sequencing Dravet Syndrome and Early Infantile Epileptic Encephalopathy Test today and take control of your child’s neurological health journey.
