Seizures in childhood. Skin findings that didn't make sense. A condition caused by one of two genes — where identifying which one shapes the treatment plan and the monitoring schedule.
Whole genome sequencing identifies TSC1 and TSC2 variants — enabling early mTOR inhibitor therapy and organ-specific surveillance tailored to your genetic profile.
Tuberous Sclerosis
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder affecting approximately 1 in 6,000 to 1 in 10,000 individuals, caused by mutations in TSC1 or TSC2. These genes encode proteins that regulate the mammalian target of rapamycin (mTOR) signaling pathway — a master controller of cell growth. Loss-of-function TSC1 or TSC2 variants cause mTOR hyperactivation, driving excessive cell growth and benign tumor formation throughout the body. TSC manifests as cortical tubers in the brain, subependymal giant cell astrocytomas (SEGAs), angiomyolipomas in the kidneys, skin manifestations (hypomelanotic macules, angiofibromas), and lymphangioleiomyomatosis in the lungs.
Neurological manifestations dominate the TSC disease burden: approximately 80–90% of patients develop epilepsy, often with seizure onset in infancy. Developmental delay and intellectual disability occur variably. Autism spectrum disorder is common. Approximately 33% of TSC cases are de novo mutations. Critically, TSC2 mutations account for approximately 70% of cases and are associated with significantly more severe disease phenotype — earlier seizure onset, higher rates of intellectual disability, and greater tumor burden. TSC1 mutations (~30% of cases) typically produce milder phenotypes with later seizure onset and better cognitive outcomes. Over 1,000 distinct TSC1/TSC2 variants have been identified.
Genotype-phenotype correlation informs surveillance intensity and prognostic counseling. TSC2-positive families should expect more aggressive disease requiring intensive brain and kidney surveillance. A confirmed TSC1 or TSC2 diagnosis mandates comprehensive protocols: brain MRI every 1–3 years to monitor SEGA development (SEGAs cause hydrocephalus and require intervention); renal imaging every 1–3 years for angiomyolipoma and cystic disease assessment; and cardiac echocardiography in infancy. Everolimus (Votubia), an FDA-approved mTOR inhibitor, directly targets the molecular consequence of TSC loss — shrinking SEGAs and angiomyolipomas while improving long-term outcomes. This represents one of the most successful gene-to-drug examples in rare disease.
TSC2 mutations cause more severe disease with earlier seizure onset and higher tumor burden; TSC1 mutations typically produce milder phenotypes with better long-term outcomes.
TSC1/TSC2 panels are relatively comprehensive but miss large deletions and regulatory variants. De novo detection can be challenging without parental comparison.
Structural variants in TSC1/TSC2 may escape standard panel detection
Although TSC1 and TSC2 are the only genes associated with tuberous sclerosis, standard targeted panels capture most coding sequence but frequently miss large deletions, intronic variants, and regulatory region changes. De novo variant detection can be challenging in sporadic cases if parental samples are not available for comparison. Approximately one-third of TSC cases are de novo, and comprehensive molecular diagnosis in these cases can be elusive with panel-based approaches. Whole genome sequencing provides complete TSC1/TSC2 coverage and enables detection of large structural variants and intronic changes that targeted approaches miss.
Genotype predicts disease severity and guides surveillance intensity
A TSC2 pathogenic variant predicts significantly more aggressive disease — earlier seizure onset, higher rates of intellectual disability, greater tumor burden, and earlier SEGA development requiring mTOR inhibitor intervention. A TSC1 variant typically predicts milder disease with later seizure onset and better cognitive outcomes. This genotype-phenotype correlation directly informs surveillance protocols: TSC2 families require more intensive brain imaging surveillance and lower thresholds for mTOR inhibitor initiation. Everolimus therapy can be started earlier in TSC2 patients to prevent SEGA progression. Cascade family screening identifies first-degree relatives.
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 Tuberous Sclerosis 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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We’ll be in touch within 2 business days. To follow up directly: hello@dantelabs.com
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
