Your skin tells a story in spots and bumps before you understand what it means. A genetic answer exists — and changes what you plan for.
Whole genome sequencing identifies NF1 variants that enable genotype-phenotype correlation, inform therapy eligibility, and clarify lifetime health trajectory for you and your family.
Neurofibromatosis Type 1
Neurofibromatosis Type 1 is caused by inherited pathogenic variants in NF1, a large gene (350 kb, 60 exons) encoding neurofibromin — a regulator of the RAS signaling pathway. RAS controls cell growth, proliferation, and differentiation. Neurofibromin normally acts as a brake on RAS signaling; pathogenic NF1 variants eliminate this brake, allowing constitutive RAS activation. The result is widespread tumor formation including café-au-lait macules, cutaneous and subcutaneous neurofibromas, optic pathway gliomas, plexiform neurofibromas, and malignant peripheral nerve sheath tumors (MPNST). Penetrance is virtually complete — 100% of NF1 carriers show some clinical features — yet expressivity is highly variable, sometimes dramatically so even within families.
Neurofibromatosis Type 1 affects approximately 1 in 3,000 people worldwide, making it one of the most common autosomal dominant genetic disorders. Approximately 50% of cases are de novo variants, without a family history. Over 3,000 distinct pathogenic variants have been catalogued across the NF1 gene, with no mutation hotspots — pathogenic mutations are distributed throughout the coding region. NF1 variants span multiple mutation types: point mutations, small insertions/deletions, splice-site variants, large deletions (including whole-gene microdeletions, which produce a more severe phenotype), and complex rearrangements. This extreme heterogeneity makes interpretation challenging without careful genetic assessment.
Identifying the specific NF1 variant has immediate medical implications. Whole-gene deletions predict more severe disease including higher risk of MPNST and intellectual disability — enabling accelerated surveillance in these higher-risk carriers. A confirmed NF1 diagnosis triggers eligibility for MEK inhibitor therapy (selumetinib) — FDA-approved specifically for inoperable plexiform neurofibromas, directly targeting the RAS pathway dysregulation caused by NF1 loss. Genetic confirmation enables cascade testing of at-risk relatives and prenatal/preimplantation genetic diagnosis for family planning.
NF1 genotype-phenotype correlation is strong: whole-gene deletions predict more severe disease and higher MPNST risk, requiring intensified surveillance compared to point-mutation carriers.
The NF1 gene is notoriously difficult to sequence. Standard panels miss whole-gene deletions, complex rearrangements, and mosaic variants — which account for ~5% of NF1 cases.
NF1 sequencing is complicated by pseudogenes and structural variants
The NF1 gene is exceptionally large and difficult to sequence accurately. It contains numerous pseudogene segments on other chromosomes that complicate standard short-read sequencing. Approximately 5% of NF1 carriers have whole-gene deletions — complete loss of the entire NF1 locus — which require specialized copy number analysis beyond what standard targeted sequencing provides. Mosaic NF1 variants, present in only a fraction of blood cells, are missed by standard sequencing depth. Whole genome sequencing provides complete coverage including pseudogene-prone regions and detects structural variants and mosaic variants that targeted panels miss.
NF1 type determines disease severity and treatment eligibility
Genetic confirmation of NF1 enables genotype-phenotype counseling: carriers with whole-gene deletions should expect more severe disease, higher MPNST risk, and potential intellectual disability — triggering more aggressive tumor surveillance. All NF1 carriers with inoperable plexiform neurofibromas are now eligible for selumetinib (Koselugo), an FDA-approved MEK inhibitor that directly targets the RAS pathway pathologically activated by NF1 loss. A genetic finding enables family cascade testing, prenatal counseling, and informed transition planning into adulthood.
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 Neurofibromatosis Type 1 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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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
