Tall frame, long fingers, a heart murmur — features that may share a single genetic origin. Confirming the variant defines the surveillance plan that protects your aorta for life.
Whole genome sequencing identifies the specific FBN1 variant — enabling aortic surveillance protocols and medical management tailored to your genetic profile.
Marfan Syndrome
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in FBN1, which encodes fibrillin-1 — a critical structural component of extracellular microfibrils that maintain mechanical integrity and regulate TGF-β signaling. Pathogenic FBN1 variants disrupt microfibril formation, leading to skeletal abnormalities (tall stature, arachnodactyly, pectus deformity, scoliosis), ocular complications (ectopia lentis, myopia, retinal detachment), and the life-threatening cardiovascular manifestations that define the syndrome's natural history.
Marfan syndrome affects approximately 1 in 5,000 to 1 in 10,000 individuals with no ancestral bias. Over 3,800 distinct FBN1 variants have been catalogued. Approximately 90–95% of individuals meeting revised Ghent diagnostic criteria carry a pathogenic FBN1 variant, while 5–10% remain genetically unresolved — likely due to regulatory mutations or deep intronic variants that standard sequencing approaches miss. Approximately 25% of Marfan cases are de novo mutations. Genotype-phenotype correlation is meaningful: haploinsufficiency variants (producing reduced but functional fibrillin-1) typically cause milder aortic disease, while dominant-negative variants (poisoning the microfibril matrix) cause more severe, early-onset aortic progression.
Progressive aortic root dilatation is the primary driver of morbidity and mortality in Marfan syndrome. Prior to modern medical management, sudden aortic dissection was the leading cause of death in the third to fourth decade of life. A confirmed FBN1 pathogenic variant mandates lifelong cardiovascular surveillance via echocardiography to monitor aortic root diameter; prophylactic aortic root surgery is indicated at 5.0 cm (or 4.5 cm with family history of dissection). Beta-blockers and ARBs slow aortic dilatation by reducing dP/dt and blunting TGF-β signaling. Genetic diagnosis enables cascade screening of first-degree relatives — approximately 50% carry the familial variant — identifying presymptomatic carriers who benefit from surveillance before aortic disease progresses to dissection risk.
FBN1 variant type predicts clinical course — haploinsufficiency variants typically cause milder disease, while dominant-negative variants drive aggressive early-onset aortic dilatation requiring intensive surveillance.
Standard FBN1 panels miss 5–10% of pathogenic variants. These elude detection because they hide in regulatory regions or deep intronic sequences.
The FBN1 variant causing your aortic risk may not be detected
Although FBN1 is the sole gene associated with Marfan syndrome, targeted panels vary in comprehensiveness. Standard exome-focused sequencing captures most of the coding sequence but frequently misses regulatory region variants, deep intronic changes, and complex rearrangements. Approximately 5–10% of clinically affected individuals meeting revised Ghent criteria have negative molecular testing — not because a variant isn't present, but because standard panels aren't designed to find it. Whole genome sequencing provides complete FBN1 coverage including intronic and regulatory regions, capturing the full spectrum of pathogenic variants.
Knowing your FBN1 variant guides your lifelong surveillance strategy
A confirmed FBN1 pathogenic variant does more than confirm diagnosis — it predicts your aortic disease trajectory. Haploinsufficiency variants typically show slower aortic progression and lower dissection risk; dominant-negative variants show aggressive early-onset dilatation. This genotype-phenotype correlation informs surveillance intensity, beta-blocker dosing, and timing of prophylactic surgery. Approximately 50% of first-degree relatives in your family carry the variant. Cascade genetic screening identifies presymptomatic relatives who can begin surveillance before aortic complications emerge.
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 Marfan Syndrome 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
Message received.
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
