Nx Gen Sequencing Comprehensive Epilepsy Test
Comprehensive Genetic Testing for Epilepsy Disorders
The Nx Gen Sequencing Comprehensive Epilepsy Test represents a breakthrough in genetic diagnostics for seizure disorders. This advanced next-generation sequencing panel analyzes over 100 genes known to be associated with various forms of epilepsy, providing clinicians and patients with critical information for accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This comprehensive epilepsy panel utilizes cutting-edge NGS technology to sequence and analyze genes including:
- Ion channel genes (SCN1A, SCN2A, KCNQ2, KCNT1)
- Neurotransmitter receptor genes (GABRA1, GABRG2, GRIN2A)
- Metabolic pathway genes (ALDH7A1, MTHFR, PNPO)
- Synaptic function genes (STXBP1, SYNGAP1)
- Developmental disorder genes (MECP2, CDKL5, ARX)
The test identifies pathogenic variants, including single nucleotide variants, small insertions/deletions, and copy number variations that may contribute to epilepsy development.
Who Should Consider This Test
This comprehensive epilepsy genetic testing is recommended for individuals experiencing:
- Unexplained seizures or epilepsy of unknown origin
- Early-onset epilepsy (infantile or childhood seizures)
- Treatment-resistant epilepsy not responding to standard medications
- Developmental delays or regression associated with seizures
- Family history of epilepsy or seizure disorders
- Specific epilepsy syndromes like Dravet syndrome, Lennox-Gastaut syndrome, or West syndrome
- Progressive myoclonic epilepsies
Key Benefits of Comprehensive Epilepsy Genetic Testing
- Accurate Diagnosis: Provides definitive genetic diagnosis for many epilepsy syndromes
- Personalized Treatment: Guides medication selection based on genetic findings
- Prognostic Information: Helps predict disease course and potential complications
- Family Planning: Identifies inheritance patterns for genetic counseling
- Early Intervention: Enables timely management strategies
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical visits
Understanding Your Test Results
Your comprehensive epilepsy genetic test results will be interpreted by our team of board-certified geneticists and neurologists. Results typically fall into three categories:
- Positive Result: A pathogenic variant is identified that explains the clinical symptoms. This provides clear diagnostic information and guides treatment decisions.
- Negative Result: No pathogenic variants are detected in the analyzed genes. This may suggest other genetic causes or non-genetic factors.
- Variant of Uncertain Significance (VUS): A genetic change is found, but its clinical significance is unknown. Additional family testing may be recommended.
All results include detailed clinical interpretation and recommendations for next steps in management.
Test Pricing and Details
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $586 |
| Regular Price | $650 |
Sample Requirements and Processing
Sample Type: 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
Shipping: Ship refrigerated. DO NOT FREEZE.
Required Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory
Turnaround Time: Sample accepted daily by 9 am; Report delivered in 40 working days
Nationwide Availability
GGC DNA has testing facilities and collection centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing for patients nationwide.
Take Control of Your Epilepsy Management
Don’t let unexplained seizures control your life. The Nx Gen Sequencing Comprehensive Epilepsy Test provides the genetic insights needed for targeted treatment and improved quality of life. Our team of genetic specialists and neurologists are ready to help you understand your condition and develop personalized management strategies.
Ready to get answers? Book your Nx Gen Sequencing Comprehensive Epilepsy Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward personalized epilepsy care.
