Epidermolysis Bullosa — the first genetic skin disease with an FDA-approved gene therapy (Vyjuvek, 2023), where molecular diagnosis of the specific gene and variant determines treatment eligibility and wound management approach.
Whole genome sequencing evaluates all 20+ epidermolysis bullosa genes simultaneously — KRT5, KRT14, COL7A1, COL17A1, LAMB3, and others — providing the molecular diagnosis required for gene therapy eligibility and accurate prognosis.
Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a group of inherited skin fragility disorders characterized by blistering and erosion of the skin and mucous membranes in response to minimal mechanical trauma. EB encompasses over 30 subtypes caused by variants in more than 20 genes encoding structural proteins of the dermal-epidermal junction. The four major types — EB simplex (EBS, primarily KRT5/KRT14), junctional EB (JEB, primarily LAMB3/LAMA3/COL17A1), dystrophic EB (DEB, COL7A1), and Kindler EB (FERMT1) — differ dramatically in severity, affected skin layer, and prognosis.
Dystrophic EB caused by biallelic COL7A1 loss-of-function variants (recessive DEB) is among the most severe forms: absent type VII collagen results in blistering below the lamina densa, producing chronic wounds, scarring contractures of the hands (mitten deformity), esophageal strictures, and a dramatically elevated risk of aggressive squamous cell carcinoma — the leading cause of death, with median onset in the third decade. Junctional EB (severe generalized form) can be lethal in infancy. EB simplex is generally the mildest major type but can cause significant morbidity.
Beremagene geperpavec (Vyjuvek), an HSV-1-based topical gene therapy delivering functional COL7A1, received FDA approval in May 2023 for treatment of wounds in dystrophic EB patients 6 months and older with COL7A1 pathogenic variants. This is the first FDA-approved gene therapy for any dermatological condition. Additional gene and cell therapy approaches are in clinical development for other EB subtypes. Molecular diagnosis confirming the specific EB gene and variant is required for Vyjuvek eligibility and for enrollment in all gene therapy clinical trials.
Beremagene geperpavec (Vyjuvek) — FDA approved May 2023 — is the first gene therapy for any skin disease. It delivers functional COL7A1 to dystrophic EB wounds. Molecular confirmation of COL7A1 variants is required for prescribing.
20+ genes cause EB. Skin biopsy with immunofluorescence narrows the type but does not provide the molecular diagnosis required for gene therapy eligibility or accurate genetic counseling.
Vyjuvek gene therapy requires confirmed COL7A1 variants — clinical or biopsy diagnosis alone is not sufficient
Beremagene geperpavec is indicated specifically for wounds in patients with dystrophic EB caused by COL7A1 pathogenic variants. Skin biopsy with immunofluorescence mapping can identify absent or reduced type VII collagen — but does not provide the molecular variant identification required for Vyjuvek prescribing or for enrollment in clinical trials. Additionally, knowing the specific COL7A1 variants determines eligibility for other emerging therapies including exon-skipping antisense oligonucleotides that target specific exons. Whole genome sequencing provides the definitive molecular diagnosis.
Prenatal diagnosis in families with severe EB enables delivery planning and immediate neonatal skin management
Families with a prior child affected by severe junctional or recessive dystrophic EB require prenatal molecular diagnosis to determine whether subsequent pregnancies are affected. Affected neonates require immediate specialized skin management at delivery — non-adherent dressings, careful handling to prevent iatrogenic blistering, and neonatal intensive care in some cases. Knowing the fetal genotype before delivery enables planned cesarean section (to reduce skin trauma) at a facility with EB-experienced neonatal care. This requires confirmed parental COL7A1, LAMB3, or other EB gene variants from whole genome sequencing.
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.
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Easy to read and with answers you and your doctor can act on. Not a file to interpret — 200+ clinical reports, organized by category.
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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 Epidermolysis Bullosa 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.
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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
