KCNQ2 Gene Early Infantile Epileptic Encephalopathy Type 7 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infant Epilepsy Disorders
The KCNQ2 Gene Early Infantile Epileptic Encephalopathy Type 7 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for severe neurological conditions in infants. This specialized test utilizes advanced Next-Generation Sequencing technology to analyze the KCNQ2 gene, which plays a critical role in potassium channel function and neuronal excitability regulation.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets mutations in the KCNQ2 gene that are known to cause Early Infantile Epileptic Encephalopathy Type 7 (EIEE7). The test identifies:
- Pathogenic variants in the KCNQ2 gene coding regions
- Missense, nonsense, and frameshift mutations
- Copy number variations affecting potassium channel function
- De novo and inherited genetic alterations
- Specific mutation patterns associated with seizure severity
Who Should Consider This Test
This genetic test is particularly recommended for infants and children presenting with:
- Early-onset seizures within the first months of life
- Developmental regression or stagnation
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological disorders
- Resistance to conventional anti-epileptic medications
- Progressive neurological deterioration
- Muscle tone abnormalities and movement disorders
Clinical Benefits of KCNQ2 Genetic Testing
Undergoing this specialized genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms EIEE7 and differentiates from other seizure disorders
- Personalized Treatment: Guides medication selection based on genetic profile
- Prognostic Information: Helps predict disease progression and outcomes
- Family Planning: Provides recurrence risk information for future pregnancies
- Early Intervention: Enables timely therapeutic interventions
- Genetic Counseling: Supports informed decision-making for families
Understanding Your Test Results
Test results are carefully interpreted by our team of genetic specialists and neurologists:
- Positive Result: Indicates the presence of a pathogenic KCNQ2 mutation, confirming EIEE7 diagnosis
- Negative Result: Suggests absence of detectable KCNQ2 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if parents carry KCNQ2 mutations with implications for future pregnancies
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | KCNQ2 Gene Early Infantile Epileptic Encephalopathy Type 7 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 |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with similar conditions
- Neurological evaluation and EEG results if available
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas 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.
Take Action Today
Don’t wait to get the answers you need for your child’s neurological health. Early diagnosis of KCNQ2-related disorders can significantly impact treatment outcomes and quality of life. Our team of genetic specialists and neurologists is ready to provide comprehensive support throughout the testing process.
Book your KCNQ2 Genetic DNA Test today or call our genetic counseling hotline at +1(267) 388-9828 to schedule your appointment and discuss your testing options with our expert team.
