KCNB1 Gene Early Infantile Epileptic Encephalopathy Type 26 NGS Genetic DNA Test
Understanding KCNB1 Gene-Related Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy Type 26 (EIEE26) represents a severe neurological condition characterized by early-onset seizures, developmental regression, and significant cognitive impairment. The KCNB1 gene plays a critical role in this disorder, encoding voltage-gated potassium channels essential for proper neuronal function and brain development. Mutations in this gene disrupt normal electrical signaling in the brain, leading to the devastating symptoms associated with EIEE26.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically targets and analyzes the KCNB1 gene to identify pathogenic variants responsible for Early Infantile Epileptic Encephalopathy Type 26. The test examines:
- Complete coding regions of the KCNB1 gene
- Specific mutation patterns associated with EIEE26
- Variant classification according to ACMG guidelines
- Potential impact on potassium channel function
- Inheritance patterns and familial risk assessment
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for infants and children presenting with the following symptoms:
- Early-onset seizures within the first year of life
- Developmental regression or stagnation
- Abnormal EEG patterns and epileptiform activity
- Hypotonia or hypertonia
- Movement disorders and ataxia
- Cognitive impairment and learning difficulties
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
Clinical Benefits of KCNB1 Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out EIEE26 with high precision
- Personalized Treatment: Enables targeted therapeutic approaches
- Genetic Counseling: Provides family planning guidance and recurrence risk assessment
- Early Intervention: Facilitates timely developmental support services
- Prognostic Information: Helps understand disease progression and outcomes
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive report provides detailed interpretation of your genetic findings:
- Positive Result: Indicates presence of pathogenic KCNB1 mutation, confirming EIEE26 diagnosis
- Negative Result: Suggests absence of known disease-causing variants in KCNB1 gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | KCNB1 Gene Early Infantile Epileptic Encephalopathy Type 26 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 Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session with our specialists
- Detailed pedigree chart of affected family members
- Neurological evaluation and documentation
- Informed consent for genetic testing
Take Action Today
Don’t wait to get the answers you need for your child’s neurological health. Our team of genetic specialists and neurologists are ready to provide comprehensive care and support throughout your testing journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the KCNB1 Gene Early Infantile Epileptic Encephalopathy Type 26 NGS Genetic DNA Test. Take the first step toward accurate diagnosis and personalized treatment planning for your child’s neurological condition.
