An abnormal echocardiogram. A family member with unexplained heart thickening. The question isn't just what — it's which gene, and what it means for your siblings and children.
Whole genome sequencing identifies the sarcomere mutations driving hypertrophic cardiomyopathy — revealing risk in family members and guiding screening and treatment decisions.
Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and the leading cause of sudden cardiac death in young athletes. It affects approximately 1 in 500 people (1 in 250 when genetic screening is applied), though actual prevalence may be higher due to incomplete penetrance. HCM is characterized by unexplained left ventricular hypertrophy, typically with asymmetric septal thickening, in the absence of abnormal loading conditions. The condition follows autosomal dominant inheritance with variable expressivity and age-related penetrance — some variants have >90% penetrance by adulthood, while others remain clinically silent in some carriers.
Two genes, MYH7 and MYBPC3, together account for 70–80% of genetically identified HCM cases. MYH7 variants (encoding beta-myosin heavy chain) are predominantly missense mutations and are associated with higher penetrance, earlier disease onset, and more severe hypertrophy. MYBPC3 variants (encoding cardiac myosin-binding protein C) are predominantly truncating and associated with later onset but still significant disease. At least eight sarcomere genes are now recognized as HCM-causing, each with distinct penetrance and phenotypic implications. Approximately 60% of HCM is familial; the remaining cases result from de novo variants.
Identifying a sarcomere mutation has profound implications for patient care and family counseling. Genetic testing enables cascade screening of family members — asymptomatic relatives may harbor pathogenic variants and warrant initiation of serial cardiac surveillance with echocardiography and ECG. Once identified, carriers benefit from activity restriction (avoiding intense competitive sports), medical therapy with beta-blockers or calcium channel blockers, and periodic assessment. Genetic information also informs family planning, prenatal testing, and preimplantation genetic diagnosis for families with known mutations, offering reproductive options.
MYH7 and MYBPC3 variants differ markedly in their inheritance patterns and phenotypic severity — MYH7 typically earlier-onset and more severe, MYBPC3 later-onset but with significant progression risk.
Standard HCM panels cover 8–15 sarcomere genes but find mutations in only 30–60% of patients. Up to 70% remain genetically unresolved.
The responsible mutation may be in a gene the panel doesn't cover
Standard HCM panels typically include 8–15 sarcomere genes including MYH7, MYBPC3, ACTC1, TNNT2, TPM1, and others. However, a definitive genetic diagnosis is found in only 30–60% of clinically diagnosed HCM patients — leaving 40–70% with no identified genetic cause. This low yield reflects incomplete coverage (some newer disease genes), difficulty detecting deep intronic variants and regulatory changes, and the reality that some HCM cases involve copy number variants not detected by standard sequencing. Additionally, variant interpretation remains challenging — pathogenic variants in under-represented populations may be misclassified as variants of uncertain significance.
A finding enables family screening and disease management before symptoms
When a pathogenic sarcomere mutation is identified, it triggers cascade screening of first-degree relatives — identifying asymptomatic carriers who may harbor the same variant. Genetic information informs clinical management: carriers undergo serial echocardiographic surveillance, avoid intense competitive sports during childhood and adolescence, and are offered medical therapy if hypertrophy develops. Genetic counseling addresses family planning, prenatal testing options, and preimplantation genetic diagnosis (PGD) for couples seeking to avoid transmission. For families with a prior sudden death, identifying the mutation in relatives enables preventive intervention before a potentially fatal arrhythmia.
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 Hypertrophic Cardiomyopathy 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
