Hereditary Connective Tissue Disorders — overlapping conditions with different aortic surgery thresholds, where the specific gene determines whether prophylactic aortic repair is needed at 5.0cm, 4.5cm, 4.2cm, or 4.0cm — a difference measured in millimeters but counted in lives.
Whole genome sequencing evaluates FBN1, TGFBR1/2, SMAD3, COL3A1, COL5A1, FLNA, and all additional connective tissue genes — providing the gene-specific aortic surveillance protocol that no clinical assessment alone can determine.
Hereditary Connective Tissue Disorders — Comprehensive
Hereditary connective tissue disorders (HCTDs) are a group of genetically distinct conditions sharing features of joint hypermobility, skin hyperextensibility, and vascular fragility — but with critically different aortic and vascular risk profiles. The major conditions include Marfan syndrome (FBN1), Loeys-Dietz syndrome (TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3), vascular Ehlers-Danlos syndrome (COL3A1), classical EDS (COL5A1, COL5A2), and others. These conditions affect approximately 1 in 3,000-5,000 people collectively.
The aortic dissection risk — the primary life-threatening complication — varies dramatically by gene. Marfan syndrome (FBN1) has a prophylactic aortic root replacement threshold of 5.0cm in adults without additional risk factors. Loeys-Dietz syndrome (TGFBR1/TGFBR2) has a lower threshold of 4.0-4.5cm because aortic dissection frequently occurs at smaller aortic diameters than Marfan. Vascular EDS (COL3A1) causes arterial rupture without preceding aneurysmal dilation — rupture occurs in normal-caliber arteries, requiring a fundamentally different surveillance strategy. These gene-specific aortic management differences directly affect survival.
Clinical overlap between HCTDs — tall stature, joint hypermobility, aortic root dilation, mitral valve prolapse, skin striae — makes clinical diagnosis unreliable without molecular testing. A patient clinically diagnosed with Marfan syndrome may actually have Loeys-Dietz syndrome (requiring more aggressive aortic surveillance and a lower surgical threshold) or familial thoracic aortic aneurysm (FTAAD, with different genetic counseling implications). The 2010 revised Ghent criteria for Marfan syndrome explicitly incorporate molecular FBN1 testing for diagnostic confirmation. All major aortic management guidelines now recommend gene-specific management.
Vascular EDS (COL3A1) causes arterial rupture without prior aneurysmal dilation — standard aortic diameter surveillance DOES NOT WORK for this condition. Management requires avoiding invasive vascular procedures whenever possible. Gene-specific diagnosis is life-saving.
Aortic surgery thresholds differ by 1+ centimeters between HCTDs. Operating at 5.0cm is appropriate for Marfan but dangerously late for Loeys-Dietz. Molecular diagnosis provides the gene-specific threshold.
Loeys-Dietz aortas dissect at smaller diameters than Marfan — the wrong surgical threshold kills patients
Multiple studies document that TGFBR1/TGFBR2 patients experience aortic dissection at root diameters of 4.0-4.5cm — well below the 5.0cm Marfan threshold. A patient clinically diagnosed as Marfan who actually has Loeys-Dietz will be monitored with a 5.0cm surgical threshold, placing them at risk for dissection before reaching the trigger for prophylactic surgery. WGS identifies the specific gene, enabling immediately application of the correct gene-specific aortic management protocol.
25% of thoracic aortic aneurysm patients have no Marfan features — familial TAAD genes require screening
Familial thoracic aortic aneurysm and dissection (FTAAD) is caused by variants in ACTA2, MYH11, PRKG1, MYLK, LOX, and MAT2A — producing aortic disease without the skeletal or ocular features of Marfan syndrome. These patients may appear clinically 'normal' until their aorta dissects. Family screening in FTAAD is critical: first-degree relatives of confirmed FTAAD patients have a 50% chance of carrying the variant and should have baseline and serial aortic imaging. WGS identifies FTAAD genes that are not tested on standard Marfan panels.
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 Connective Tissue Disorders — Comprehensive 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
