KCNA2 Gene Early Infantile Epileptic Encephalopathy Type 32 NGS Genetic DNA Test
Understanding KCNA2 Gene-Related Neurological Disorders
The KCNA2 Gene Early Infantile Epileptic Encephalopathy Type 32 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This specialized genetic test focuses on identifying mutations in the KCNA2 gene, which encodes voltage-gated potassium channels crucial for proper neuronal function and brain development. Early infantile epileptic encephalopathy type 32 is a severe neurological condition characterized by treatment-resistant seizures that typically manifest within the first months of life, often leading to significant developmental delays and neurological impairment.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis specifically targets:
- Pathogenic variants in the KCNA2 gene associated with epileptic encephalopathy
- Missense mutations affecting potassium channel function
- Genetic alterations that disrupt neuronal excitability and signaling
- Inheritance patterns for family genetic counseling
- Specific mutation types that may influence treatment response
Clinical Significance of KCNA2 Mutations
KCNA2 gene mutations significantly impact neuronal potassium channels, leading to altered electrical activity in the brain. These genetic changes can cause either gain-of-function or loss-of-function effects, resulting in different clinical presentations ranging from severe early-onset epileptic encephalopathy to milder developmental epileptic encephalopathies.
Who Should Consider This Genetic Test?
This specialized genetic evaluation is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Developmental regression or stagnation following seizure onset
- Treatment-resistant epilepsy unresponsive to conventional medications
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
- Neurological symptoms including hypotonia, ataxia, or movement disorders
Early Intervention Benefits
Early genetic diagnosis enables timely intervention strategies, including targeted antiepileptic medications that may be more effective for specific KCNA2 mutation types. Understanding the genetic basis of the condition helps families make informed decisions about care and management.
Comprehensive Benefits of KCNA2 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of early infantile epileptic encephalopathy type 32
- Personalized Treatment: Enables targeted therapeutic approaches based on specific mutation types
- Family Planning: Offers crucial information for genetic counseling and recurrence risk assessment
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing understanding of potassium channel disorders
- Early Intervention: Facilitates prompt initiation of appropriate management strategies
Understanding Your Genetic Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic KCNA2 gene mutation associated with early infantile epileptic encephalopathy type 32. This confirmation enables:
- Targeted treatment planning with your neurologist
- Family genetic counseling for inheritance patterns
- Development of personalized seizure management strategies
- Connection with specialized support networks
Negative Result Considerations
A negative result suggests that KCNA2 gene mutations were not detected, though other genetic causes for epileptic encephalopathy may still be present. Further genetic testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance, requiring additional family studies and clinical correlation for proper interpretation.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | KCNA2 Gene Early Infantile Epileptic Encephalopathy Type 32 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 |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Detailed neurological evaluation and seizure documentation
- Previous EEG and imaging study results when available
- Informed consent for genetic testing
Nationwide Accessibility Across USA
We proudly serve patients across all major metropolitan areas in the United States, with convenient testing locations 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 Arizona metropolitan area
- Philadelphia and Delaware Valley
- And many additional locations nationwide
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your child’s neurological condition delay proper diagnosis and treatment. Our specialized KCNA2 genetic testing provides the answers families need to make informed medical decisions and access appropriate care.
Ready to schedule your genetic evaluation? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Early genetic diagnosis can make a significant difference in managing early infantile epileptic encephalopathy. Take the first step toward understanding your child’s condition and accessing targeted treatment options.
