You were told your aorta is larger than expected. Or that a relative needed emergency vascular surgery. The answer to why may be written in a single gene.
Whole genome sequencing identifies FBN1, TGFBR1, MYH11, and other vascular gene variants — enabling surveillance protocols and informed surgical planning for heritable aortic disease.
Aortic Aneurysm / Vascular Genetics
Heritable thoracic aortic disease encompasses a group of conditions predisposing to thoracic aortic aneurysm and dissection (TAAD) — a life-threatening emergency where the aortic wall tears and causes massive bleeding. Approximately 20% of thoracic aortic aneurysms have a familial basis. FBN1 variants cause Marfan syndrome (prevalence approximately 1 in 5,000), which affects the aorta, eyes, and skeleton. TGFBR1 variants cause Loeys-Dietz syndrome, characterized by aggressive early-onset aortic disease, craniofacial features, and tissue friability. MYH11 variants cause familial non-syndromic TAAD, often with patent ductus arteriosus. All three follow autosomal dominant inheritance. Aortic dissection can occur without warning at aortic diameters considered safe in the general population — particularly in Loeys-Dietz syndrome, where aggressive aortic dilation and dissection can occur at relatively small aortic diameters.
FBN1 encodes fibrillin-1, a major structural component of extracellular matrix microfibrils; pathogenic variants weaken connective tissue and dysregulate transforming growth factor beta (TGF-β) signaling, causing progressive aortic root dilation. Over 3,000 FBN1 variants have been catalogued. TGFBR1 encodes a TGF-β type I receptor; loss-of-function variants paradoxically increase TGF-β signaling in the aortic wall, driving more aggressive aneurysm formation. MYH11 encodes smooth muscle myosin heavy chain; variants impair vascular smooth muscle cell contraction, compromising aortic wall integrity. Eleven genes total have confirmed high-penetrance TAAD risk, but three — FBN1, TGFBR1, and MYH11 — account for the majority of heritable cases.
Confirming a heritable aortic disease diagnosis transforms management into aggressive prevention. For FBN1-related disease, regular imaging (echocardiography or CT/MRI) monitors aortic root diameter; beta-blockers or angiotensin II receptor antagonists slow aortic dilation and delay dissection. Prophylactic aortic root replacement is offered when the aortic root reaches a diameter-specific threshold — typically 5.0–5.5 cm for FBN1, but much smaller (~5.0 cm) for TGFBR1 because dissection risk is higher at smaller diameters. Gene-specific thresholds are critical: using the wrong criterion delays necessary surgery and increases sudden death risk. Identifying a pathogenic variant enables cascade testing of relatives, informing imaging surveillance and surgical planning. Activity restriction (avoiding strenuous sports) is advised.
FBN1, TGFBR1, and MYH11 variants have distinct phenotypes and surgery thresholds — FBN1 typically milder, TGFBR1 more aggressive with lower dissection threshold, MYH11 non-syndromic TAAD.
Standard TAAD panels test 11–20 genes but identify mutations in only ~30% of familial non-syndromic thoracic aortic disease.
Most familial thoracic aortic disease remains genetically unresolved
TAAD panels typically test 11–20 genes associated with heritable aortic disease. However, identifiable mutations in known genes account for only approximately 30% of familial non-syndromic TAAD. FBN1 and Loeys-Dietz genes (TGFBR1, TGFBR2) together account for only approximately 10% of familial TAAD. ACTA2 (smooth muscle alpha-actin) accounts for 12–21%; MYH11 and others for smaller fractions. The majority of familial TAAD remains genetically unexplained, suggesting undiscovered genes, oligogenic inheritance, or polygenic contributions. Whole genome sequencing enables both rare variant detection and genome-wide risk score calculation.
A finding determines surgical thresholds and prevents dissection
When a pathogenic aortic disease variant is confirmed, gene-specific surgical thresholds become critical for preventing sudden death. FBN1-related disease typically warrants prophylactic surgery at aortic root diameter 5.0–5.5 cm; Loeys-Dietz syndrome (TGFBR1) warrants prophylactic surgery at much smaller diameters (~5.0 cm or even smaller) because of higher dissection risk at smaller sizes. Using the wrong threshold — basing surgery decisions on general population guidelines rather than gene-specific criteria — delays necessary intervention. Cascade testing identifies at-risk relatives before their first imaging study, enabling lifelong surveillance and preventing sudden aortic dissection through preventive surgery.
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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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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.
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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.
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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.
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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.
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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.
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