CACNA1H Gene Epilepsy Childhood Absence Type 6 Susceptibility NGS Genetic DNA Test
Understanding Childhood Absence Epilepsy Type 6
Childhood absence epilepsy type 6 is a specific neurological disorder characterized by brief, sudden lapses in consciousness that typically begin in childhood. The CACNA1H gene plays a critical role in this condition, as it encodes the alpha-1H subunit of voltage-gated calcium channels in the brain. These channels are essential for proper neuronal communication and synaptic transmission. When mutations occur in the CACNA1H gene, they can disrupt calcium channel function, leading to abnormal electrical activity in the brain that manifests as absence seizures.
What This Advanced Genetic Test Detects
Our comprehensive NGS Genetic DNA Test specifically analyzes the CACNA1H gene to identify mutations associated with susceptibility to childhood absence epilepsy type 6. The test examines:
- Point mutations and single nucleotide variants in the CACNA1H gene
- Small insertions and deletions affecting calcium channel function
- Genetic variations that alter calcium channel gating properties
- Mutations affecting neuronal excitability and seizure threshold
- Inherited genetic markers for epilepsy susceptibility
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing specific symptoms or with particular risk factors:
- Children experiencing brief staring spells or absence seizures
- Patients with unexplained episodes of consciousness loss
- Individuals with family history of childhood epilepsy
- Patients with suspected genetic epilepsy syndromes
- Those with treatment-resistant absence seizures
- Families planning pregnancy with epilepsy history
Common Symptoms Indicating Testing Need
- Sudden brief lapses in awareness lasting 10-20 seconds
- Repetitive blinking or facial movements during episodes
- Automatic movements like lip smacking or hand rubbing
- Frequent daydreaming episodes affecting school performance
- Unexplained learning difficulties or attention problems
Significant Benefits of Genetic Testing
Undergoing the CACNA1H gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms genetic basis of epilepsy symptoms
- Personalized Treatment: Guides medication selection based on genetic profile
- Family Planning: Provides genetic counseling information for future generations
- Early Intervention: Enables proactive management before symptoms worsen
- Reduced Diagnostic Uncertainty: Eliminates years of unclear diagnoses
- Targeted Monitoring: Allows focused neurological follow-up
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results:
- Positive Result: Indicates identified mutation in CACNA1H gene associated with epilepsy susceptibility
- Negative Result: Suggests no detected mutations in analyzed gene regions
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling
Clinical Implications
Positive results typically indicate increased susceptibility to childhood absence epilepsy type 6, enabling:
- Initiation of appropriate anti-epileptic medications
- Implementation of seizure precautions and safety measures
- Regular neurological monitoring and follow-up
- Family genetic counseling sessions
- Educational support and accommodations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CACNA1H Gene Epilepsy Childhood Absence Type 6 Susceptibility 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 Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session before testing
- Detailed pedigree chart of family members affected by epilepsy
- Neurological evaluation and current medication list
- Informed consent for genetic testing
Nationwide Accessibility
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, and San Jose. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Take Control of Your Neurological Health
Understanding your genetic predisposition to childhood absence epilepsy can transform your approach to neurological health management. Early detection through genetic testing empowers you and your healthcare providers to implement targeted interventions, optimize treatment strategies, and provide appropriate family guidance.
Ready to Schedule Your Test?
Take the first step toward comprehensive neurological genetic assessment. Our specialized team is ready to assist you with scheduling, answer your questions, and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to book your CACNA1H Gene Epilepsy Test and begin your journey toward personalized neurological care.
Our genetic counselors and neurological specialists are committed to providing you with accurate testing, clear result interpretation, and comprehensive support throughout your diagnostic journey.
