HCN1 Gene Early Infantile Epileptic Encephalopathy Type 24 NGS Genetic DNA Test
Comprehensive Genetic Diagnosis for Severe Neurological Disorders
The HCN1 Gene Early Infantile Epileptic Encephalopathy Type 24 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the HCN1 gene, which plays a critical role in neuronal excitability and brain development. Early infantile epileptic encephalopathy type 24 is a severe neurological condition characterized by treatment-resistant seizures, developmental regression, and significant cognitive impairment that typically manifests within the first months of life.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the HCN1 gene, which encodes hyperpolarization-activated cyclic nucleotide-gated potassium channel 1. This test identifies:
- Pathogenic variants and mutations in the HCN1 gene
- De novo mutations responsible for early-onset epileptic encephalopathy
- Inherited genetic patterns affecting neuronal channel function
- Specific nucleotide changes impacting ion channel regulation
- Genetic markers associated with treatment response variability
Who Should Consider This Genetic Test
This specialized diagnostic test is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Developmental regression or stagnation
- Abnormal EEG patterns and epileptiform activity
- Treatment-resistant epilepsy despite multiple medications
- Family history of neurological disorders or infantile seizures
- Unexplained developmental delays with seizure activity
- Hypotonia or abnormal muscle tone patterns
- Feeding difficulties and growth concerns
Significant Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through our HCN1 testing provides numerous clinical advantages:
- Targeted Treatment Planning: Enables neurologists to develop personalized anti-epileptic medication strategies
- Prognostic Information: Provides valuable insights into disease progression and long-term outcomes
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental therapies and support services
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
- Clinical Trial Eligibility: Opens opportunities for participation in specialized research studies
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clinical context:
- Positive Result: Indicates the presence of a pathogenic HCN1 mutation, confirming the diagnosis of early infantile epileptic encephalopathy type 24
- Negative Result: Suggests that HCN1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and family studies
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results are accompanied by detailed clinical guidance and recommendations for management strategies from our team of genetic specialists and neurologists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility and Convenience
We maintain comprehensive testing facilities across the United States, with specialized genetic testing centers in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures convenient access to advanced genetic diagnostics regardless of your location.
Take Action for Accurate Diagnosis
Don’t let uncertainty delay proper diagnosis and treatment. Early genetic testing can provide the clarity needed to develop effective management strategies for complex neurological conditions. Our team of genetic counselors and neurological specialists are available to guide you through the testing process and result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your HCN1 Gene Early Infantile Epileptic Encephalopathy Type 24 NGS Genetic DNA Test. Our genetic specialists are ready to answer your questions and help you take the next step toward accurate diagnosis and comprehensive care.
