Epilepsy Genetic Testing — where the specific gene determines which anti-seizure medication works, which one makes seizures worse, and whether precision therapies like the ketogenic diet or mTOR inhibitors are indicated.
Whole genome sequencing evaluates all 100+ epilepsy genes simultaneously — SCN1A, SCN2A, KCNQ2, CDKL5, STXBP1, SLC2A1, TSC1/TSC2, and others — providing the molecular diagnosis that guides gene-specific treatment selection.
Epilepsy — Genetic Testing
Epilepsy affects approximately 1 in 26 people (3.4 million in the US), and up to 70-80% of cases have a genetic etiology — from single-gene (monogenic) epilepsies to complex polygenic susceptibility. Over 100 monogenic epilepsy genes have been identified, encoding ion channels (SCN1A, SCN2A, KCNQ2, KCNQ3, KCNA2), synaptic proteins (STXBP1, SYNGAP1), metabolic enzymes (SLC2A1, ALDH7A1), transcription factors (CDKL5, FOXG1), and mTOR pathway components (TSC1, TSC2, DEPDC5). Genetic diagnosis is increasingly guiding treatment selection.
Gene-specific treatment is the most important application of epilepsy genetics. SCN1A variants (Dravet syndrome) — patients are worsened by sodium channel blockers (carbamazepine, phenytoin, lamotrigine), the most commonly prescribed anti-seizure class. KCNQ2 variants — respond to sodium channel blockers, particularly carbamazepine. SLC2A1 variants (GLUT1 deficiency) — the ketogenic diet is the treatment of choice, and anti-seizure medications alone are insufficient. TSC1/TSC2 variants — everolimus (mTOR inhibitor) is FDA-approved for TSC-associated seizures. These gene-specific treatment responses mean that empirical anti-seizure medication selection without genetic diagnosis risks using the wrong drug.
Approximately 30% of epilepsy patients are refractory to standard anti-seizure medications (drug-resistant epilepsy). Genetic testing in refractory epilepsy identifies the cause in approximately 20-40% of cases — often revealing that drug resistance was actually drug-inappropriateness (wrong medication for the genetic subtype). Additionally, genetic diagnosis of epilepsy informs surgical candidacy, developmental prognosis, recurrence risk counseling, and eligibility for gene-specific clinical trials (ASOs for SCN1A, gene therapy for CDKL5 and STXBP1).
SCN1A patients are WORSENED by sodium channel blockers — the most commonly prescribed anti-seizure class. This is among the most important pharmacogenomic interactions in neurology. Molecular SCN1A diagnosis prevents iatrogenic seizure worsening.
100+ epilepsy genes cannot be tested sequentially. The specific gene determines the right medication, the wrong medication, and whether precision therapies (ketogenic diet, mTOR inhibitors, ASOs) are indicated.
30% of 'drug-resistant' epilepsy may actually be 'wrong-drug' epilepsy — genetic diagnosis identifies the correct treatment
A patient with SCN1A-related Dravet syndrome prescribed carbamazepine (a first-line anti-seizure medication) will experience worsened seizures — and may be labeled 'drug-resistant' rather than 'inappropriately treated.' Genetic diagnosis reveals that the seizures are not refractory to all medications — just to sodium channel blockers. Switching to clobazam, stiripentol, or fenfluramine (all effective in SCN1A) may dramatically improve seizure control. WGS identifies the specific gene, enabling selection of the optimal medication from the outset.
Gene therapy trials for CDKL5, STXBP1, SCN1A in development — molecular diagnosis determines eligibility
ASO therapies for SCN1A (targeting gain-of-function variants), gene replacement therapy for CDKL5 deficiency disorder, and multiple additional gene-specific approaches are in preclinical and early clinical development. All trials require confirmed molecular diagnosis of the specific causative gene. Early genetic diagnosis ensures that patients are identified and enrolled in trials when they become available — before years of uncontrolled seizures cause cumulative developmental harm.
Your full DNA (not just a part of it)
Traditional genetic testing looks at narrow sets of genes, missing most parts of your genome. We sequence your full genome — every gene and every region between genes.
Comprehensive insights and specialized reports
Easy to read and with answers you and your doctor can act on. Not a file to interpret — 200+ clinical reports, organized by category.
Your test becomes more valuable every year
Your DNA does not change, but genome science is accelerating. Every month, new variant-disease associations are discovered. We validate these findings and update your reports automatically. Your test becomes more valuable every year.
The results doctors bring to their hardest cases.
Forty years of uncertainty. One test.
A patient had spent decades in the UK healthcare system without a diagnosis. Dante data, accepted by NHS clinical teams at Queen Elizabeth University Hospital Glasgow, identified Noonan Syndrome and a RUNX1 leukemia-associated variant that had gone undetected. After 40 years, they finally had an answer.
A complete read delivers a complete picture.
A patient came to Dante to investigate periodic paralysis. Reading the complete genome identified a concurrent hereditary cardiac finding — Brugada syndrome — that their doctor confirmed with an ECG. The result also explained a family member's unresolved cardiac history. One test. Every answer in it.
Sequenced in 2019. The data worked in 2021.
Jennifer sequenced her genome with Dante two years before her breast cancer diagnosis. When treatment began, Dante's pharmacogenomics data showed her prescribed chemotherapy would cause serious adverse effects. Her doctor selected an alternative — and she started effective treatment from day one.
Every genetic question deserves a complete answer.
Whether you are searching for answers today or protecting your health for tomorrow, a complete read of your entire genome is the only place to start.
It runs in your family. Now you can know if it runs in your genes.
Your genome contains inherited variants associated with medical conditions like cardiac, cancer, and neurological. We read all of them — with the clinical depth to give the result meaning.
Learn more →When traditional lab tests say you're fine. And you know you're not.
Standard diagnostic tests check for a pre-selected set of answers. We sequence your full DNA — including parts that no test was designed to check. If the answer is in your genome, we will help you find it.
Learn more →Your diagnosis may be right. Your treatment plan may be incomplete.
Your genes determine which treatments are most likely to work — and which are not. We give your doctor the tools and insights to inform your treatment plan.
Learn more →You want to know before something forces the question.
Some people don't wait for a diagnosis or a family history to act. Whole genome sequencing gives you the complete genetic picture now — so you and your doctor can make informed decisions before anything becomes urgent.
Learn more →You already took a DNA test. Here's what it couldn't tell you.
Most consumer DNA tests read less than 0.1% of your genome. We read all of it.
Learn more →Clinical-grade results. Chosen by individuals, trusted by doctors for their most complex cases.
Dante Genome Test helped specialists at a UK national acute hospital in the identification of Noonan Syndrome and a rare leukemia-associated genetic variant that had gone undetected. That result changed the medical care of the patient.
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Common questions about whole genome sequencing.
What is the difference between whole genome sequencing and a targeted genetic test?
Targeted genetic tests — including standard hereditary cancer panels — read a pre-defined list of known variants in a specific set of genes. They are designed to find what they already know to look for. Whole genome sequencing reads your entire genome: all 6 billion base pairs, every gene, every region between genes. A Mayo Clinic study published in JAMA Oncology found that standard testing guidelines missed more than half of patients with inherited cancer mutations. Genome Test does not have a fixed list.
What will I receive when my results are ready?
Your Dante Genome delivers 200+ physician-ready reports organized by clinical category — hereditary cancer, cardiac conditions, rare diseases, pharmacogenomics, carrier status, and more. Reports are delivered to your secure Genome Manager and are formatted for direct clinical use. Your genome data is permanently retained and re-analyzed automatically as science advances.
What happens if a clinically significant variant is found?
If a pathogenic or likely-pathogenic variant is identified, it will be clearly flagged in your physician-ready report with clinical context, published evidence, and recommended next steps. We recommend sharing any clinically significant finding with your physician or a genetic counselor, who can guide decisions about surveillance, risk reduction, or cascade testing for family members.
How is this different from a consumer DNA test like 23andMe or AncestryDNA?
Consumer DNA tests use genotyping chips that read less than 0.1% of your genome — a tiny pre-selected set of common variants. They are optimized for ancestry and population-level traits, not clinical genetic findings. The Dante Genome Test sequences 100% of your genome at 30X coverage, the same standard used in clinical diagnostic settings. The two tests are not comparable in scope, methodology, or clinical utility.
How long does it take to get results, and how are they delivered?
Your collection kit ships within 48 hours of ordering. Once your sample arrives at our CLIA-certified laboratory, sequencing and analysis takes 6–8 weeks. Results are delivered securely to your Genome Manager, where you can access your reports, share them with your physician, and receive automatic updates as new findings are validated against your genome.
We work with patient advocacy groups worldwide.
Dante Labs works with patient advocacy groups of any size — for Epilepsy — Genetic Testing and other conditions, rare and common. We support groups in any country, including virtual patient advocacy groups.
We can provide customized reports, group discounts, and packages tailored for your members. Please reach out using the form and we'll be in touch within two business days.
- Custom genomic reports for your members
- Group discounts and tailored packages
- Any country — including virtual groups
- Rare and common conditions covered
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One test.
A lifetime of answers.
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Ships within 48 hours · Results in 6–8 weeks
