Bardet-Biedl Syndrome — a ciliopathy where the first FDA-approved genetic obesity therapy (setmelanotide) targets the specific melanocortin pathway disruption, requiring molecular BBS diagnosis for prescribing eligibility.
Whole genome sequencing evaluates all 25+ BBS genes simultaneously — including oligogenic and triallelic inheritance patterns that single-gene testing cannot detect — providing the molecular diagnosis required for setmelanotide therapy.
Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy — a disorder of primary cilia, the sensory organelles present on virtually all cell types — caused by pathogenic variants in at least 25 genes (BBS1 through BBS21, plus additional modifiers). Primary cilia dysfunction disrupts signaling in multiple tissues, producing the characteristic BBS phenotype: retinal dystrophy (rod-cone dystrophy leading to blindness by the second decade), obesity (hyperphagia-driven, beginning in early childhood), renal anomalies (structural malformations, renal failure), postaxial polydactyly, learning disability, and hypogonadism. BBS affects approximately 1 in 100,000 in European populations, with higher prevalence in consanguineous populations.
The obesity in BBS is mechanistically distinct from common obesity — it is driven by disruption of leptin-melanocortin signaling in the hypothalamus, a direct consequence of ciliary dysfunction in hypothalamic neurons. This molecular mechanism is therapeutic target: setmelanotide (Imcivree), an MC4R agonist, was FDA-approved in 2022 for chronic weight management in patients with BBS aged 6 years and older. Setmelanotide produces clinically meaningful weight loss by bypassing the ciliary signaling defect and directly activating the downstream melanocortin-4 receptor pathway.
BBS exhibits genetic complexity beyond simple autosomal recessive inheritance. Oligogenic and triallelic inheritance — where variants in a second BBS gene modify disease severity or are required for full phenotypic expression — have been documented. BBS1 (p.Met390Arg) and BBS10 variants are the most common in European populations. The 25+ gene landscape and oligogenic modifier effects make comprehensive genomic testing essential — sequential single-gene testing is impractical, and gene panels may not include all known BBS genes or detect the modifier alleles that affect clinical expression.
Setmelanotide (Imcivree, FDA 2022) is the first therapy targeting the specific melanocortin pathway disruption in BBS obesity. Molecular BBS diagnosis is required for prescribing — standard obesity management does not address the underlying mechanism.
25+ BBS genes with oligogenic inheritance cannot be evaluated by standard single-gene or small-panel testing. WGS captures the complete BBS genetic architecture including modifier alleles.
Setmelanotide prescribing requires confirmed BBS molecular diagnosis — empirical obesity management fails in BBS
Standard behavioral and pharmacological obesity interventions are largely ineffective in BBS because the obesity is driven by hypothalamic ciliary dysfunction, not by behavioral or metabolic factors amenable to conventional approaches. Setmelanotide specifically addresses this mechanism by activating MC4R downstream of the ciliary defect. The FDA indication specifies BBS confirmed by genetic testing. Without molecular diagnosis, BBS patients are managed with standard obesity interventions that address the wrong mechanism, while the targeted therapy remains unavailable.
Retinal dystrophy in BBS begins in childhood and progresses to blindness — early diagnosis enables low-vision preparation and future gene therapy eligibility
Rod-cone dystrophy in BBS typically progresses to legal blindness by the late teenage years or early twenties. Early molecular BBS diagnosis enables: immediate ophthalmological baseline and monitoring, low-vision skill development while residual vision remains, orientation and mobility training, and potential eligibility for emerging retinal gene therapy clinical trials that target specific BBS genes. Without early diagnosis, vision loss may be attributed to other causes, delaying the supportive interventions that maximize quality of life during the vision loss transition.
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 Bardet-Biedl 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
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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
