Usher Syndrome — the most common genetic cause of combined deafness and blindness, where identifying the specific gene determines the timeline of vision loss and eligibility for gene therapy trials that could preserve remaining sight.
Whole genome sequencing evaluates all 10+ Usher syndrome genes simultaneously — including USH2A, which requires detection of deep intronic variants missed by standard exon sequencing — providing the molecular diagnosis that determines gene therapy eligibility.
Usher Syndrome
Usher syndrome is the most common genetic cause of combined hearing loss and vision loss (deaf-blindness), accounting for approximately 50% of hereditary deaf-blindness worldwide. It is an autosomal recessive condition classified into three clinical types: type 1 (congenital profound sensorineural hearing loss, absent vestibular function, prepubertal onset retinitis pigmentosa), type 2 (congenital moderate-to-severe hearing loss, normal vestibular function, teenage-onset RP), and type 3 (progressive hearing loss, variable RP onset). Usher syndrome affects approximately 1 in 6,000-10,000 people.
The genetic basis involves at least 10 genes: USH1 is caused by variants in MYO7A (USH1B, most common type 1), CDH23 (USH1D), PCDH15 (USH1F), USH1C, or USH1G. USH2 is caused by variants in USH2A (the single most common Usher gene, accounting for approximately 50% of all Usher syndrome cases), ADGRV1 (USH2C), or WHRN (USH2D). USH3 is caused by CLRN1 variants (common in Finnish and Ashkenazi Jewish populations). USH2A is among the largest genes in the genome (51 exons spanning ~800kb of genomic DNA), and pathogenic variants include deep intronic variants that create aberrant splice sites — variants that standard exon-sequencing panels do not detect.
Gene therapy clinical trials are actively underway for Usher syndrome — particularly for USH1B (MYO7A) and USH2A retinal degeneration. Subretinal and intravitreal AAV-based gene delivery aims to preserve remaining photoreceptor function in patients with early-stage retinitis pigmentosa. Eligibility for these trials requires molecular confirmation of the specific causative gene and variant, and typically requires sufficient residual retinal function for measurable therapeutic benefit. Early molecular diagnosis — before vision loss becomes severe — maximizes the treatment window for gene therapy intervention.
USH2A deep intronic variants (such as c.7595-2144A>G) create aberrant splice sites that are missed by standard exon-sequencing panels. These variants account for a meaningful proportion of 'missing' USH2A alleles in patients with clinical Usher type 2 and only one identified coding variant.
USH2A deep intronic pathogenic variants are invisible to exon-panel sequencing. Whole genome sequencing reads across the entire 800kb USH2A locus, detecting the intronic splice variants that resolve previously unsolved Usher type 2 cases.
Gene therapy eligibility requires confirmed molecular diagnosis — and early treatment preserves more vision
Multiple gene therapy clinical trials are in progress for Usher syndrome retinal degeneration, with specific programs targeting MYO7A (USH1B), USH2A, and other genes. Eligibility requires molecular confirmation of the specific causative gene, and most trials require sufficient residual photoreceptor function for measurable therapeutic effect. Because retinitis pigmentosa in Usher syndrome is progressive and irreversible, every year of delayed molecular diagnosis is a year of vision loss that reduces the potential benefit of future gene therapy. Whole genome sequencing in children with sensorineural hearing loss identifies Usher syndrome genotypes before vision symptoms appear — the optimal window for intervention.
Every child with unexplained sensorineural hearing loss should have Usher syndrome evaluated — before RP symptoms appear
Retinitis pigmentosa in Usher syndrome type 2 typically begins with night blindness in the teenage years, with progressive visual field constriction over subsequent decades. By the time RP is clinically apparent, significant photoreceptor loss has already occurred. Identifying USH2A or other Usher gene variants in a child diagnosed with sensorineural hearing loss — years before any visual symptoms — enables proactive ophthalmological monitoring, early enrollment in prevention trials, and psychological preparation for progressive vision loss. This early identification is only possible through molecular testing at the time of hearing loss diagnosis.
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 Usher 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
