GABRB3 Gene Epilepsy Childhood Absence Type 5 NGS Genetic DNA Test
Comprehensive Introduction to GABRB3 Gene Epilepsy Testing
The GABRB3 Gene Epilepsy Childhood Absence Type 5 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the GABRB3 gene that cause childhood absence epilepsy. This sophisticated genetic analysis provides families and healthcare providers with critical information for understanding and managing this complex neurological condition.
Childhood absence epilepsy is characterized by brief, sudden lapses in consciousness that typically begin in early childhood. The GABRB3 gene plays a crucial role in encoding the beta-3 subunit of the GABA-A receptor, which is essential for proper inhibitory neurotransmission in the brain. Mutations in this gene can disrupt normal brain function, leading to the characteristic absence seizures observed in affected individuals.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically targets:
- Pathogenic variants in the GABRB3 gene associated with childhood absence epilepsy type 5
- Single nucleotide polymorphisms (SNPs) affecting GABA receptor function
- Copy number variations impacting gene expression
- Novel mutations previously unidentified through conventional testing methods
- Inheritance patterns that may affect family planning decisions
Advanced NGS Technology for Superior Accuracy
Utilizing cutting-edge Next-Generation Sequencing technology, this test provides unparalleled sensitivity and specificity in detecting genetic variants. NGS allows for comprehensive analysis of the entire GABRB3 gene, ensuring no potentially significant mutations are missed during the testing process.
Who Should Consider GABRB3 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with:
- Unexplained absence seizures beginning in childhood
- Family history of childhood epilepsy or seizure disorders
- Developmental delays accompanied by seizure activity
- Resistance to conventional anti-epileptic medications
- Multiple seizure types without clear diagnosis
- Suspected genetic epilepsy syndromes
Clinical Indications and Symptoms
Patients experiencing frequent staring spells, brief consciousness lapses, automatic behaviors, or subtle facial movements may benefit from this genetic evaluation. Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life.
Significant Benefits of GABRB3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of childhood absence epilepsy type 5
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning Guidance: Offers valuable information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt treatment initiation to minimize developmental impact
- Prognostic Information: Helps predict disease course and potential complications
- Research Contribution: Advances understanding of genetic epilepsy disorders
Understanding Your Test Results
Our comprehensive results report includes detailed interpretation and clinical guidance:
Positive Results
A positive result indicates the presence of pathogenic variants in the GABRB3 gene associated with childhood absence epilepsy. This confirmation enables:
- Targeted anti-epileptic medication selection
- Implementation of appropriate seizure management strategies
- Family member screening recommendations
- Long-term neurological monitoring plans
Negative Results
A negative result suggests that no known pathogenic variants were detected in the GABRB3 gene. However, this does not completely rule out genetic causes, as other genes may be involved. Further evaluation may be recommended based on clinical presentation.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance. In such cases, ongoing research and family studies may help clarify their clinical relevance over time.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurological Genetics
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent process completion
Nationwide Testing Availability
We proudly offer this advanced genetic testing service across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures convenient access to this crucial diagnostic service.
Take Action Today for Genetic Clarity
Don’t let uncertainty about childhood epilepsy conditions affect your family’s future. Our specialized GABRB3 genetic testing provides the answers you need for informed medical decisions and peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your comprehensive genetic evaluation. Our genetic counselors are available to discuss your specific situation and guide you through the testing process.
Early genetic diagnosis can make a significant difference in managing childhood absence epilepsy effectively. Take the first step toward genetic clarity and personalized treatment approaches by booking your test now.
