STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test
Comprehensive Genetic Diagnosis for Severe Infantile Epilepsy
The STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic test specifically targets mutations in the STXBP1 gene, which plays a critical role in neurotransmitter release and synaptic function. Early infantile epileptic encephalopathy type 4 (EIEE4) is a severe neurological disorder characterized by early-onset seizures, developmental regression, and significant cognitive impairment. Our state-of-the-art testing provides families and healthcare providers with definitive genetic answers, enabling personalized treatment approaches and informed medical decisions.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically analyzes the STXBP1 gene for pathogenic variants including:
- Missense, nonsense, and frameshift mutations
- Copy number variations and deletions
- Splice site mutations affecting protein function
- Novel variants of uncertain significance
- Inheritance patterns (autosomal dominant)
The STXBP1 gene encodes syntaxin-binding protein 1, which is essential for proper neurotransmitter release at synaptic terminals. Mutations in this gene disrupt normal brain development and neuronal communication, leading to the characteristic features of EIEE4.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for infants and children presenting with:
- Early-onset seizures within the first months of life
- Treatment-resistant epilepsy unresponsive to multiple medications
- Developmental regression or stagnation
- Abnormal EEG patterns including burst-suppression or hypsarrhythmia
- Hypotonia (reduced muscle tone) progressing to hypertonia
- Movement disorders including ataxia or dystonia
- Intellectual disability and autism spectrum features
- Family history of similar neurological conditions
Key Benefits of STXBP1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out EIEE4 with high accuracy
- Treatment Guidance: Informs medication selection and management strategies
- Prognostic Information: Helps predict disease progression and outcomes
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates timely therapeutic interventions
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies a pathogenic variant in the STXBP1 gene, confirming EIEE4 diagnosis
- Negative Result: No disease-causing mutations detected, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed interpretation from our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test – Discount Price | $500 |
| STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We provide 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 more. Our network of certified collection centers ensures accessible testing for families nationwide.
Take the Next Step Toward Answers
Don’t let uncertainty about your child’s neurological symptoms continue. Our specialized STXBP1 genetic testing provides the clarity needed for effective treatment planning and family guidance. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our genetic specialists are ready to help you navigate this important journey toward diagnosis and effective management.
