RARE DISEASES

Years of unexplained symptoms — hypermobility, fragile skin, chronic pain — and a medical system that couldn't connect them. The connection is genetic, and it has a name.

Whole genome sequencing identifies the specific genetic variants underlying EDS — giving you the molecular diagnosis that directs targeted care and long-term management.

CLIA Certified CAP Accredited ISO 15189 Medical Lab ACMG Classified HIPAA & GDPR 100,000+ Genomes Sequenced
ABOUT EHLERS-DANLOS SYNDROME

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome comprises at least 14 distinct genetic subtypes, each caused by defects in collagen synthesis, processing, or stability. Classic EDS (cEDS), caused by COL5A1 mutations, produces severe skin hyperextensibility, atrophic scarring, and delayed wound healing. Vascular EDS (vEDS), caused by COL3A1 mutations, is the most life-threatening form — characterized by spontaneous vascular rupture, organ perforation, and median lifespan of about 51 years. Hypermobile EDS (hEDS), the most common form, remains genetically unresolved in most cases — likely involving multiple genes rather than a single identifiable mutation.

Prevalence is estimated at 1 in 2,500 to 1 in 5,000 overall, though variation exists across populations. Over 20 genes are now associated with EDS across all subtypes. Classic EDS predominantly affects individuals of European ancestry, while vascular EDS shows no strong ancestral bias. Age of symptom onset ranges from infancy (in classic forms with obvious skin findings) to early adulthood. Skin hyperextensibility, bruising, and joint hypermobility are often the earliest signs — sometimes dismissed as benign variants until a pathological finding (such as sudden arterial rupture) reveals the true diagnosis.

Understanding EDS subtype matters profoundly for medical management. A COL3A1 variant confirms vascular EDS and mandates aggressive surveillance: high-dose beta-blockers to reduce vascular stress, avoidance of contact sports and Valsalva maneuvers, and consideration of prophylactic vascular repair. A COL5A1 variant directs wound care strategies and activity guidance. For hEDS patients who remain genetically unresolved, a negative result confirms the clinical diagnosis stands — surveillance protocols continue even without molecular confirmation. Genetic cascade screening identifies first-degree relatives at risk, enabling early intervention.

Fourteen EDS subtypes exist, each with distinct genetic causes and drastically different long-term prognoses — from manageable skin involvement to life-threatening vascular rupture.

WHY WHOLE GENOME SEQUENCING

Standard panels cover only the most common EDS genes. Approximately 50% of non-hEDS patients receive no molecular diagnosis — missing the genetic subtype that guides treatment.

The specific EDS gene causing your symptoms may not be on the panel

Targeted EDS panels typically focus on COL5A1 and COL3A1, capturing the most common subtypes. However, over 20 genes are now associated with EDS across all subtypes — including TNXB, PLOD1, FKBP14, and others — many of which are rarely interrogated by standard panels. Structural variants, intronic mutations, and regulatory changes frequently go undetected by exome-focused sequencing. Whole genome sequencing provides complete interrogation of all known EDS genes, including regions that standard panels miss entirely.

Knowing the genetic cause changes the management for life

Genotype predicts phenotype — and phenotype predicts which clinical interventions matter most. A COL3A1 variant patient needs high-dose beta-blockers, activity restriction, and vascular monitoring; a COL5A1 patient needs wound care optimization and activity counseling. Approximately 50% of EDS patients remain genetically unresolved, making molecular diagnosis a game-changer for cascade screening and family planning. A genetic finding enables surveillance tailored to the specific genetic subtype and risk profile.

WHAT SEQUENCING YOUR ENTIRE GENOME ACTUALLY MEANS
01

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.

02

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.

03

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.

OUTCOMES

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.

See outcomes →
WHO WE HELP

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.

ALREADY TESTED

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.

30X whole genome coverage
5M+ variants identified per test
200+ customized clinical reports
99.98% sequencing accuracy

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

Clinical Laboratory Improvement Amendments College of American Pathologists American Society of Human Genetics Nature International Society for Cell & Gene Therapy Gene Journal
FREQUENTLY ASKED QUESTIONS

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.

PATIENT ADVOCACY GROUPS

We work with patient advocacy groups worldwide.

Dante Labs works with patient advocacy groups of any size — for Ehlers-Danlos Syndrome (EDS) 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

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.

Free global shipping
Ships within 48 hours
Results in 6–8 weeks

Ships within 48 hours · Results in 6–8 weeks

Dante Labs Genome Test Kit