Unexplained liver problems in a young person. Neurological symptoms that don't fit a clear diagnosis. A copper metabolism gene that, once identified, points to a treatment that works.
Whole genome sequencing identifies ATP7B variants that cause Wilson disease — enabling prompt chelation therapy and dietary management.
Wilson Disease
Wilson disease is an autosomal recessive metabolic disorder caused by ATP7B mutations, which encode a copper-transporting ATPase essential for hepatic copper excretion into bile and for incorporating copper into ceruloplasmin. Loss-of-function ATP7B variants impair copper excretion, causing pathological accumulation in the liver, brain (basal ganglia), and other organs. Clinical manifestations include progressive hepatic cirrhosis and neurological copper deposition leading to tremor, rigidity, dysgraphia, and behavioral changes. The disease is unique among genetic disorders: it is entirely treatable and preventable — early chelation therapy before symptom onset completely prevents all disease manifestations.
Wilson disease affects approximately 1 in 30,000 to 1 in 50,000 individuals worldwide; carrier frequency is approximately 1 in 90. Over 600 ATP7B variants have been identified, with significant population-specific variation. Approximately 70% of variants are private or population-specific; the H1069Q variant is most common in European populations (responsible for 30–70% of cases depending on ancestry), while R778L and other variants predominate in other populations. Most patients are compound heterozygotes. Clinical presentation typically occurs in adolescence or early adulthood; hepatic manifestations predominate in children under 10, while neurological symptoms dominate in older patients.
Early genetic diagnosis and treatment are life-altering. A confirmed ATP7B pathogenic variant mandates immediate initiation of chelation therapy with D-penicillamine or trientine, followed by long-term zinc acetate maintenance therapy. Asymptomatic siblings and first-degree relatives identified through cascade screening should begin prophylactic zinc therapy immediately. Hepatic response to chelation occurs within 2–6 months; neurological improvement (when started presymptomatically or early) occurs over 6–18 months. Untreated Wilson disease is uniformly fatal — leading to hepatic failure or irreversible neurological deterioration. With early molecular diagnosis and intervention, Wilson disease represents one of the rare genetic diseases where genetic testing provides a genuine cure-like outcome.
Wilson disease is underscreened because it's not included in broad genetic panels. Over 600 ATP7B variants exist — many population-specific and easy to miss.
Wilson disease screening requires targeted ATP7B testing that many panels don't include
Wilson disease is rarely detected by broad genetic panels because ATP7B testing is not standard. The variant landscape is highly diverse — over 600 distinct ATP7B mutations exist, with approximately 70% being private or population-specific variants. Standard next-generation sequencing may miss large deletions or rare variants, particularly in non-European populations. Testing modalities vary globally, and a negative result does not exclude Wilson disease if clinical biochemical markers (ceruloplasmin, serum copper, 24-hour urine copper) remain abnormal. Whole genome sequencing captures the entire ATP7B gene and enables detection of structural variants that targeted approaches might miss.
A genetic diagnosis unlocks treatment that stops the disease entirely
Once ATP7B variants are identified, treatment response is dramatic. Chelation therapy with D-penicillamine or trientine rapidly lowers copper levels; zinc acetate blocks new copper absorption and maintains long-term control. Early treatment — before symptom onset in asymptomatic family members — completely prevents disease manifestations. Hepatic improvement begins within 2–6 months; neurological improvement follows over 6–18 months if started presymptomatically. The genetic diagnosis enables cascade screening of all siblings and first-degree relatives, who should begin prophylactic zinc therapy regardless of biochemical copper status.
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.
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Easy to read and with answers you and your doctor can act on. Not a file to interpret — 200+ clinical reports, organized by category.
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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.
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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 Wilson Disease 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.
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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
