Stickler Syndrome — the most common inherited cause of retinal detachment, where prophylactic retinal treatment in childhood can prevent the blindness that occurs without it.
Whole genome sequencing evaluates all Stickler syndrome genes — COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3 — distinguishing the high-retinal-risk type 1 from low-retinal-risk type 2, which determines the intensity of ophthalmological surveillance.
Stickler Syndrome
Stickler syndrome is the most common inherited connective tissue disorder, affecting approximately 1 in 7,500-9,000 births. It is caused by pathogenic variants in genes encoding collagen types II, IX, and XI — structural components of vitreous humor, cartilage, and inner ear. Six types are recognized based on the causative gene: type 1 (COL2A1, most common, ~75%), type 2 (COL11A1, ~10-15%), type 3 (COL11A2, non-ocular), type 4 (COL9A1), type 5 (COL9A2), and type 6 (COL9A3). Types 1 and 2 are autosomal dominant with variable expressivity; types 4-6 are autosomal recessive.
The cardinal features are ocular (myopia, vitreous anomalies, retinal detachment, cataracts), skeletal (Pierre Robin sequence, midface hypoplasia, micrognathia, joint hypermobility, early-onset osteoarthritis, spondyloepiphyseal abnormalities), and auditory (sensorineural and/or conductive hearing loss). Retinal detachment is the most vision-threatening complication — it occurs in approximately 60-70% of untreated type 1 patients (COL2A1 variants with membranous vitreous anomaly) but only ~5-10% of type 2 patients (COL11A1 variants with beaded vitreous anomaly). This dramatic difference in retinal detachment risk by genotype directly determines the ophthalmological surveillance intensity.
Prophylactic retinal treatment — cryotherapy or laser retinopexy applied to the peripheral retina in childhood — dramatically reduces retinal detachment risk in type 1 Stickler syndrome from ~60-70% to approximately 5-10%. The Cambridge prophylaxis study demonstrated that this simple intervention preserves sight in the majority of patients who would otherwise develop blindness from retinal detachment. However, prophylactic treatment is most beneficial in type 1 (COL2A1) patients; type 2 (COL11A1) patients have lower baseline risk and may not require prophylaxis. Molecular genotyping is therefore essential for determining the appropriate retinal management strategy.
Pierre Robin sequence (micrognathia, glossoptosis, cleft palate) in a neonate is frequently the first presentation of Stickler syndrome — all infants with Pierre Robin should have ophthalmological assessment and Stickler genetic testing.
COL2A1 (type 1) vs. COL11A1 (type 2) determines retinal detachment risk — 60-70% vs. 5-10%. This single genotype distinction determines whether prophylactic retinal treatment is indicated.
Prophylactic retinal cryotherapy prevents blindness — but only if type 1 Stickler is identified before detachment occurs
The Cambridge prophylaxis protocol reduces retinal detachment in type 1 Stickler syndrome from ~65% to ~6% — one of the most effective preventive interventions in ophthalmology. However, it must be performed before the first detachment occurs, ideally in childhood. This requires early molecular diagnosis to identify type 1 (COL2A1) patients and implement prophylaxis before the detachment age window. Without molecular testing, Stickler patients may receive standard myopia management without the specialized retinal surveillance and prophylaxis that prevents blindness.
Every child with Pierre Robin sequence should be tested for Stickler syndrome — it is the most common underlying cause
Pierre Robin sequence (PRS) — micrognathia, glossoptosis (posterior tongue displacement), cleft palate — occurs in approximately 30-40% of Stickler syndrome type 1 patients. Conversely, Stickler syndrome is the most common identifiable cause of PRS. Any neonate with PRS should have comprehensive Stickler gene testing and immediate ophthalmological assessment. Without molecular testing, PRS is managed as an isolated malformation sequence — and the retinal detachment risk, hearing loss, and joint complications of underlying Stickler syndrome go unmonitored until they present clinically.
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.
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 Stickler 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.
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One test.
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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
