Spinocerebellar Ataxia — 40+ genetic subtypes of progressive cerebellar degeneration, where antisense oligonucleotide trials are advancing rapidly and molecular subtype identification determines eligibility for gene-specific therapies.
Whole genome sequencing evaluates all 40+ SCA genes — including CAG repeat expansions (SCA1/2/3/6/7/17), non-coding repeat expansions (SCA8/10/36), and conventional mutations (SCA5/11/13/14) — in a single comprehensive analysis.
Spinocerebellar Ataxia
Spinocerebellar ataxias (SCAs) are a group of over 40 autosomal dominant progressive cerebellar degenerative disorders, numbered SCA1 through SCA48+ as new genes are identified. The most common SCAs worldwide are SCA3/Machado-Joseph disease (ATXN3 CAG expansion, ~21% globally), SCA2 (ATXN2 CAG expansion, ~15%), SCA6 (CACNA1A CAG expansion, ~15%), SCA1 (ATXN1 CAG expansion, ~6%), and SCA7 (ATXN7 CAG expansion, ~5%). Combined SCA prevalence is approximately 1-5 per 100,000, varying by population and geography.
SCAs present with progressive cerebellar ataxia (gait unsteadiness, dysarthria, oculomotor abnormalities) with variable additional features depending on the specific subtype: SCA1 and SCA2 include pyramidal signs and peripheral neuropathy; SCA3 includes dystonia, ophthalmoplegia, and parkinsonism; SCA6 is a pure cerebellar ataxia with late onset; SCA7 includes progressive retinal degeneration (the only SCA with macular dystrophy). Age of onset correlates inversely with repeat expansion length (anticipation — longer repeats cause earlier onset in successive generations, particularly through paternal transmission).
Antisense oligonucleotide (ASO) therapies targeting the polyglutamine-encoding mRNA transcripts are in clinical trials for SCA1, SCA2, and SCA3 — the three most common polyglutamine SCAs. These gene-silencing approaches aim to reduce toxic protein production. Additionally, ion channel modulators and small molecules targeting downstream cerebellar degeneration pathways are being evaluated. All trials require confirmed molecular SCA subtype for enrollment. The importance of early molecular diagnosis extends beyond current trial enrollment: natural history studies establishing outcome measures for future trials also require genotyped participants.
SCA7 is the only SCA with retinal degeneration — any patient with progressive ataxia plus macular dystrophy should have ATXN7 repeat testing. The retinal component can precede the ataxia, mimicking isolated retinal dystrophy.
40+ SCA subtypes cannot be tested sequentially. Repeat expansion detection technology now enables WGS to identify CAG expansions and non-coding repeats that historically required specialized assays.
ASO therapies for SCA1/2/3 in clinical trials — molecular subtype determines eligibility for gene-specific silencing approaches
Antisense oligonucleotides designed to silence ATXN1 (SCA1), ATXN2 (SCA2), or ATXN3 (SCA3) mRNA are gene-specific — an SCA1 ASO does not treat SCA3, and vice versa. Clinical trial enrollment requires confirmed molecular diagnosis with documented repeat expansion length. Without molecular subtyping, patients with clinically indistinguishable progressive cerebellar ataxia cannot access gene-specific trials. WGS identifies the specific SCA subtype from a single test, ending the stepwise single-gene testing that delays trial enrollment.
Anticipation means that children of SCA patients may develop symptoms decades earlier — presymptomatic testing enables planning and future trial enrollment
CAG repeat expansions in SCA1/2/3/7 exhibit anticipation — intergenerational repeat instability (particularly through paternal transmission) produces longer repeats in offspring, causing earlier onset and more severe disease. A parent with SCA3 onset at age 45 may have a child with onset at age 25. Presymptomatic testing identifies at-risk family members before symptom onset, enabling enrollment in prevention trials, life planning, and immediate clinical trial access when symptoms begin. Genetic counseling before presymptomatic testing is essential.
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 Spinocerebellar Ataxia 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
