GABRD Gene Epilepsy Idiopathic Generalized Type 10 NGS Genetic DNA Test
Understanding GABRD Gene Epilepsy Testing
The GABRD Gene Epilepsy Idiopathic Generalized Type 10 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the GABRD gene, which encodes the delta subunit of the GABA-A receptor complex. GABA (gamma-aminobutyric acid) serves as the primary inhibitory neurotransmitter in the central nervous system, and disruptions in GABA signaling can lead to neuronal hyperexcitability and seizure activity.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test examines the complete coding region of the GABRD gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the GABRD gene
- Pathogenic variants associated with epilepsy susceptibility
- Novel mutations that may impact GABA receptor function
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals experiencing:
- Unexplained seizure episodes starting in childhood or adolescence
- Family history of idiopathic generalized epilepsy
- Absence seizures, myoclonic jerks, or generalized tonic-clonic seizures
- Seizures that don’t respond adequately to standard anti-epileptic medications
- Developmental delays or cognitive concerns alongside seizure activity
- Multiple family members with similar seizure patterns
Clinical Indications and Symptoms
Patients presenting with symptoms consistent with idiopathic generalized epilepsy type 10 may benefit from genetic testing. These symptoms often include:
- Brief staring spells or absence seizures
- Sudden muscle jerks (myoclonus)
- Generalized tonic-clonic seizures
- Photosensitivity to flashing lights
- Sleep deprivation triggering seizure activity
- Normal neurological examination between seizures
Benefits of GABRD Genetic Testing
Undergoing genetic testing for GABRD mutations provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of epilepsy
- Personalized Treatment: Guides medication selection based on genetic profile
- Family Planning: Provides information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease course and potential complications
- Early Intervention: Enables timely management strategies for at-risk family members
- Research Contribution: Advances understanding of epilepsy genetics
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the GABRD gene, confirming genetic susceptibility to epilepsy type 10
- Negative Result: Suggests that GABRD mutations are not the cause of your symptoms, though other genetic factors may be involved
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance requires further investigation
- Carrier Status: Determines if you carry a mutation that could be passed to offspring
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: Neurology and Genetics
- Disease Category: Neurological Disorders
Pre-Test Requirements
Before scheduling your GABRD genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss implications and expectations
- Development of a detailed family pedigree chart
- Review of potential psychological impacts of genetic testing
- Discussion of insurance coverage and financial considerations
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, and many more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about your seizure condition control your life. The GABRD Gene Epilepsy Idiopathic Generalized Type 10 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized treatment approaches. Our team of genetic specialists and neurologists is ready to support you through every step of the testing process.
Ready to begin your genetic testing journey? Contact us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic profile and optimizing your neurological care.
