Your feet have always been different — weak, a little numb — and no one ever connected the dots. Turns out, the dots connect to a gene.
Whole genome sequencing identifies the specific genetic cause of CMT, enabling accurate subtype diagnosis, prognosis, medication guidance, and access to gene-specific clinical trials.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy, affecting approximately 1 in 2,500 people. It is characterized by progressive distal muscle weakness and atrophy (typically starting in feet and legs), sensory loss, decreased reflexes, and progressive foot deformities (pes cavus, hammer toes). Onset is typically in the first or second decade of life but varies widely across individuals and genetic subtypes. Severity ranges from mild foot drop to wheelchair dependence, with highly variable progression rates.
The genetic landscape of CMT is profoundly heterogeneous: over 100 distinct genetic subtypes have been described involving more than 45 causative genes. Major inheritance categories include CMT1 (demyelinating, autosomal dominant, ~50% of cases), CMT2 (axonal, ~15–30%, mostly autosomal dominant), and CMTX (X-linked, ~10–15%). The four most commonly mutated genes — PMP22, GJB1, MPZ, and MFN2 — account for approximately 90% of positive molecular diagnoses. PMP22 1.5-Mb duplication causes CMT1A (the most common form); MFN2 mutations cause CMT2A; GJB1 mutations cause CMTX1 with X-linked inheritance patterns.
A genetic diagnosis in CMT is essential for clinical management: accurate subtype classification determines prognosis and progression rate; specific inheritance patterns enable genetic counseling with precise recurrence risks; medication safety changes — vincristine is contraindicated in PMP22-related CMT and can cause severe neuropathy; gene-specific clinical trials (PXT3003 for CMT1A, gene therapy approaches) become accessible; and connection to natural history studies enables informed surveillance and planning. For the substantial portion of CMT patients without a genetic diagnosis, Genome Test may provide the answer that ends their diagnostic odyssey.
CMT comprises over 100 genetic subtypes with demyelinating, axonal, intermediate, and X-linked forms. The four most common genes account for 90% of diagnoses, but the remaining 10% require comprehensive genetic sequencing.
Standard panels cover 8–20 genes. CMT has 45+ known causes. Step-wise single-gene testing leaves 20–40% undiagnosed.
CMT's extreme genetic heterogeneity defeats step-wise panel testing
CMT genetic testing has historically relied on step-wise approaches: first, PMP22 duplication/deletion analysis (identifies only ~50% of CMT); then, targeted gene panels (8–20 genes, identifying an additional ~30–40%). This leaves 20–40% of patients without a molecular diagnosis. Even comprehensive panels cannot detect all 45+ known CMT genes, rare subtypes, copy number variants beyond PMP22, or intronic variants. Copy number variant detection for the critical PMP22 duplication requires separate analysis not always performed. Whole genome sequencing with proper CNV detection and bioinformatic depth captures all known CMT genes, the PMP22 duplication, intronic variants, and novel candidate genes in a single test.
A genetic diagnosis enables subtype-specific care and clinical trials
Accurate genetic subtyping is transformative: CMT1A (PMP22 duplication) qualifies for gene therapy trials (PXT3003, Phocéa trial); CMT2A (MFN2) qualifies for emerging mitochondrial-targeted therapies in development; CMTX1 (GJB1) requires X-linked inheritance counseling and may qualify for gap junction-targeted approaches. All diagnosed subtypes enable avoidance of neurotoxic medications (vincristine contraindication in PMP22-related disease), accurate prognostic counseling, and surveillance for associated complications. For undiagnosed CMT patients (approximately 40%), Genome Test often provides the genetic answer that explains their neuropathy and opens access to targeted interventions.
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 Charcot-Marie-Tooth Disease 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
