CHD2 Gene Epileptic Encephalopathy Childhood-Onset NGS Genetic DNA Test
Understanding CHD2 Gene Epileptic Encephalopathy
CHD2 gene epileptic encephalopathy represents a severe form of childhood-onset epilepsy characterized by developmental delays, intellectual disability, and treatment-resistant seizures. The CHD2 gene plays a critical role in chromatin remodeling and neuronal development, making mutations in this gene particularly impactful on brain function and development.
What This Test Measures
Our advanced NGS genetic DNA test specifically analyzes the CHD2 gene to identify pathogenic variants associated with:
- Complete sequencing of the CHD2 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of variants affecting chromatin remodeling function
- Assessment of mutation impact on neurological development
Who Should Consider This Test?
This genetic test is recommended for children and individuals presenting with:
- Early-onset seizures before age 5
- Developmental regression following seizure onset
- Intellectual disability or developmental delays
- Multiple seizure types including myoclonic, absence, or tonic-clonic seizures
- Abnormal EEG patterns
- Family history of similar neurological conditions
- Resistance to conventional anti-epileptic medications
Clinical Benefits of CHD2 Genetic Testing
Early genetic diagnosis through CHD2 testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of epileptic encephalopathy
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Family Planning: Offers recurrence risk information for future pregnancies
- Clinical Trial Eligibility: May qualify patients for specialized treatment studies
- Comprehensive Care Planning: Facilitates multidisciplinary management approach
Understanding Your Test Results
Our comprehensive genetic counseling services help interpret your CHD2 test results:
- Positive Result: Indicates a pathogenic CHD2 mutation is present, confirming the genetic diagnosis
- Negative Result: Suggests CHD2 mutations are not the cause, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CHD2 Gene Epileptic Encephalopathy Childhood-Onset 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 |
Pre-Test Requirements
Before scheduling your CHD2 genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed family pedigree chart
- Neurological evaluation and EEG results when available
- Discussion of potential implications and insurance coverage
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take the Next Step Toward Diagnosis
If your child is experiencing symptoms of epileptic encephalopathy or developmental delays, early genetic testing can provide crucial answers. Our CHD2 gene test offers the most advanced diagnostic capabilities available, helping families understand the underlying cause of neurological symptoms and guiding appropriate treatment strategies.
Call us today at +1(267) 388-9828 to schedule your genetic consultation or book your CHD2 genetic test online. Our team of neurological genetics specialists is ready to provide the comprehensive care and answers your family deserves.
