Your cholesterol has been high since childhood — not because of diet, but because your cells can't clear LDL from your bloodstream. Knowing the genetic cause changes the treatment.
Whole genome sequencing identifies LDLR, APOB, and PCSK9 variants driving familial hypercholesterolemia — enabling early, targeted therapy and cascade screening for your family.
Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is the most common monogenic cause of premature coronary artery disease, affecting approximately 1 in 250 individuals worldwide. It results from inherited variants in genes encoding proteins that regulate LDL cholesterol clearance from the bloodstream. The LDLR gene encodes the LDL receptor, which removes LDL cholesterol from circulation; the APOB gene encodes apolipoprotein B-100, the ligand that binds to the LDL receptor; and PCSK9 encodes a protease that degrades LDL receptors. Variants in any of these genes impair the cell's ability to clear LDL, leading to lifelong markedly elevated circulating LDL cholesterol.
LDLR variants account for 85–90% of genetically confirmed FH cases. Over 1,600 distinct pathogenic LDLR variants have been catalogued. APOB and PCSK9 variants account for the remaining cases. Heterozygous FH affects approximately 1 in 250 to 500 people; homozygous FH is rarer (1 in 160,000 to 300,000) but causes severe cardiovascular disease in childhood. Untreated heterozygous FH carriers have greater than 50% cumulative risk of coronary events by age 50 in men and age 60 in women. Despite its prevalence and the availability of genetic testing, fewer than 10% of affected individuals are identified worldwide.
Confirming an FH diagnosis unlocks aggressive treatment strategies that dramatically reduce cardiovascular risk. High-intensity statin therapy is first-line; those with inadequate LDL reduction become candidates for PCSK9 inhibitors, which can lower LDL by 50% beyond statins. Newer agents such as bempedoic acid and inclisiran provide additional options. Identifying a pathogenic variant in a proband triggers cascade testing of all first-degree relatives — finding other carriers before a first cardiac event enables early treatment and prevention. For children identified as carriers, early lipid management can prevent or delay coronary disease by decades.
LDLR, APOB, and PCSK9 variants operate through different mechanisms — receptor synthesis, LDL binding, or receptor degradation — but all result in the same phenotype of elevated LDL and premature atherosclerosis.
Standard FH panels test a fixed list of known variants. They miss novel mutations and fail to detect mutations in ~60% of clinically diagnosed patients.
Novel variants are the rule, not the exception
Targeted FH panels typically test only known, previously characterized pathogenic variants in LDLR, APOB, and PCSK9. However, with over 1,600 LDLR variants catalogued and new mutations continually being discovered, panels miss rare and novel variants. In clinical cohorts, identifiable mutations in these three genes account for only approximately 40% of patients with a clinical FH diagnosis. The remaining 60% may harbor novel rare variants, variants in less-tested genes (LDLRAP1, APOE), or have a polygenic basis with multiple small-effect loci contributing. Whole genome sequencing captures the entire coding and regulatory sequence of all FH-related genes simultaneously.
A finding enables aggressive treatment before plaque forms
When a pathogenic FH variant is confirmed, it transforms treatment strategy. High-intensity statins become justified in children as young as 8–10 years old (typically contraindicated in the general pediatric population), dramatically reducing lifetime atherosclerotic burden. Adult carriers become candidates for combination therapy with PCSK9 inhibitors or newer agents if statins alone prove insufficient. Cascade testing of family members identifies at-risk relatives before the first cardiac event — often the first indication of FH is a fatal heart attack, which genetic testing can prevent in 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.
Accredited by & published in
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 Familial Hypercholesterolemia 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
