Numbness in your hands. Unexplained heart failure. A protein that's misfolding and accumulating — where identifying the variant unlocks treatments that can slow or stop progression.
Whole genome sequencing identifies TTR variants — enabling early initiation of disease-modifying therapy when it matters most.
Hereditary Transthyretin Amyloidosis (ATTR)
Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant disorder caused by TTR mutations, which encode transthyretin — a plasma transport protein synthesized primarily in the liver and retina. Pathogenic TTR missense variants cause protein misfolding and destabilization; mutant transthyretin molecules misfold more readily and nucleate amyloid fibril formation. Progressive amyloid deposition in peripheral nerves causes progressive sensorimotor polyneuropathy; amyloid deposition in the myocardium causes restrictive cardiomyopathy. Untreated ATTR is fatal within 7–12 years of symptom onset. Over 130 pathogenic TTR variants have been identified, with strong genotype-phenotype correlations: Val30Met causes predominantly neuropathic disease; Val122Ile causes predominantly cardiomyopathic disease.
ATTR prevalence is estimated at 1 in 100,000 overall, but the Val122Ile variant alone is carried by 3–4% of African Americans — approximately 1.5 million carriers in the United States. This variant is the most common pathogenic TTR variant in the US and is associated with predominantly cardiomyopathic disease, affecting 10–15% of African American heart failure patients over 60. Val30Met is the most common amyloidogenic variant worldwide and has founder populations in Portugal, Sweden, and Japan with predominantly neuropathic disease. The genetic variant determines the predominant phenotype: neuropathic forms (like Val30Met) cause primarily peripheral nerve symptoms; cardiac forms (like Val122Ile) cause primarily myocardial infiltration and heart failure.
A confirmed TTR pathogenic variant diagnosis is transformative. Three FDA-approved disease-modifying therapies now exist: tafamidis (Vyndaqel), a kinetic stabilizer that prevents transthyretin misfolding; patisiran (Onpattro) and vutrisiran (Alnylam/Vyr), RNA interference therapeutics that reduce hepatic transthyretin production; and inotersen (Tegsedi), an antisense oligonucleotide also reducing transthyretin. These therapies halt disease progression and can induce regression if started early. Phenotype-specific therapy selection is important: tafamidis appears most effective for neuropathic disease. Genotype also informs prognosis — Val30Met neuropathy typically progresses more slowly than other variants. Family cascade screening is critical; presymptomatic carriers can begin prophylactic therapy before symptom onset.
TTR variants predict clinical phenotype — Val30Met causes predominantly peripheral neuropathy, Val122Ile causes predominantly cardiomyopathy, with dramatic implications for surveillance and treatment strategy.
ATTR is not typically included in broad genetic panels. Over 130 TTR variants exist, and genotype-phenotype correlation is critical for management.
ATTR requires targeted TTR screening that most panels don't include
Hereditary transthyretin amyloidosis is rarely detected by broad genetic panels because targeted TTR testing is not standard. ATTR is increasingly integrated into cardiac and neuropathy workups in specialized centers, but many patients are initially misdiagnosed as having other cardiac or neurological conditions. The clinical phenotype correlates imperfectly with specific genotypes, complicating interpretation. Over 130 pathogenic TTR variants have been identified; genetic testing is essential for phenotype prediction and prognosis. Whole genome sequencing provides complete TTR coverage and enables simultaneous evaluation of other amyloidosis genes.
Genotype predicts phenotype and enables targeted disease-modifying therapy
A confirmed TTR pathogenic variant diagnosis is life-altering. Three FDA-approved disease-modifying therapies halt disease progression or induce regression if started early. Phenotype-specific therapies are emerging: tafamidis appears most effective for neuropathic disease; RNA interference therapies reduce transthyretin production broadly. Early treatment initiation — before irreversible peripheral nerve damage or myocardial infiltration occurs — is critical. Genotype informs prognosis: Val30Met neuropathy typically progresses more slowly than other variants. Family cascade screening identifies presymptomatic carriers who can begin prophylactic therapy before symptom onset.
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 Hereditary Transthyretin Amyloidosis (ATTR) 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
