GABRG2 Gene Epilepsy Childhood Absence Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Childhood Absence Epilepsy
The GABRG2 Gene Epilepsy Childhood Absence Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for childhood absence epilepsy type 2. This advanced genetic analysis provides critical insights for families and healthcare providers managing this specific form of epilepsy characterized by brief, sudden lapses in consciousness.
What This Test Measures and Detects
This sophisticated genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the GABRG2 gene, which encodes the gamma-aminobutyric acid type A receptor subunit gamma-2. The test specifically identifies:
- Pathogenic variants and mutations in the GABRG2 gene
- Single nucleotide polymorphisms (SNPs) affecting GABA receptor function
- Genetic alterations that disrupt normal inhibitory neurotransmission
- Inherited mutations associated with childhood absence epilepsy type 2
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with specific clinical indications:
- Children experiencing recurrent absence seizures characterized by brief staring spells
- Patients with family history of childhood absence epilepsy or related seizure disorders
- Individuals with treatment-resistant absence seizures requiring genetic insights
- Patients with atypical seizure presentations suggesting genetic epilepsy syndromes
- Families seeking genetic counseling for inherited neurological conditions
- Children with developmental delays accompanied by seizure activity
Key Symptoms and Clinical Indicators
Common symptoms that may indicate the need for GABRG2 genetic testing include:
- Brief episodes of impaired consciousness lasting 10-20 seconds
- Sudden cessation of ongoing activities without warning
- Mild clonic movements of eyelids, facial muscles, or fingers
- Automatic behaviors or simple automatisms during episodes
- High frequency of seizures, sometimes occurring hundreds of times daily
- Normal development and neurological examination between seizures
Benefits of GABRG2 Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the GABRG2 Gene Epilepsy Childhood Absence Type 2 NGS Genetic DNA Test offers numerous significant benefits:
- Precise Diagnosis: Provides definitive genetic confirmation of childhood absence epilepsy type 2
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning Guidance: Offers valuable information for genetic counseling and family planning decisions
- Prognostic Insights: Helps predict disease course and potential treatment responses
- Early Intervention: Facilitates timely intervention and management strategies
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odysseys and unnecessary testing
Clinical Management Benefits
- Informs medication selection and dosage optimization
- Guides monitoring for potential comorbidities and complications
- Supports educational and developmental planning
- Provides basis for participation in clinical trials and research studies
- Enables comprehensive family risk assessment and genetic counseling
Understanding Your Test Results
Interpretation Guidelines
Your GABRG2 genetic test results will be carefully interpreted by our team of genetic specialists and neurologists:
- Positive Result: Identification of a known pathogenic variant confirms the genetic diagnosis of childhood absence epilepsy type 2
- Negative Result: Absence of known pathogenic variants reduces the likelihood of GABRG2-related epilepsy but doesn’t exclude other genetic causes
- Variant of Uncertain Significance (VUS): Novel genetic changes requiring further clinical correlation and family studies
- Carrier Status: Identification of individuals carrying the mutation without clinical symptoms
Post-Test Guidance
Following your test results, our genetic counseling team provides:
- Comprehensive result interpretation and explanation
- Personalized management recommendations
- Family testing guidance and risk assessment
- Referrals to appropriate neurological specialists
- Ongoing support and follow-up care coordination
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GABRG2 Gene Epilepsy Childhood Absence Type 2 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 |
| Specialty | Neurology and Genetics |
Pre-Test Requirements and Preparation
Essential Pre-Test Instructions
To ensure optimal testing conditions and accurate results, please prepare the following:
- Clinical History Documentation: Complete clinical history of the patient undergoing GABRG2 genetic testing
- Genetic Counseling Session: Mandatory pre-test genetic counseling to discuss testing implications and expectations
- Family Pedigree Chart: Detailed pedigree chart documenting family members affected with GABRG2-related epilepsy
- Informed Consent: Comprehensive understanding and signed consent for genetic testing
- Insurance Verification: Confirmation of insurance coverage or payment arrangements
Nationwide Testing Availability
We proudly offer the GABRG2 Gene Epilepsy Childhood Absence Type 2 NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our extensive network includes testing centers in:
- New York, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
And many other major metropolitan areas throughout the country. Our nationwide presence ensures convenient access to advanced genetic testing services for patients and families across the United States.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about childhood absence epilepsy control your family’s future. The GABRG2 Gene Epilepsy Childhood Absence Type 2 NGS Genetic DNA Test provides the definitive answers you need to make informed healthcare decisions and develop effective management strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our compassionate team of genetic specialists and neurological experts is ready to guide you through every step of the testing process, from initial consultation to comprehensive result interpretation and ongoing support.
Take control of your neurological health journey with the precision and clarity that only advanced genetic testing can provide. Contact us now to begin your path to genetic understanding and personalized epilepsy management.
