Distinctive features, short stature, a heart condition — symptoms that may all trace to a single gene in the RAS pathway. Identifying which one shapes the care plan.
Whole genome sequencing identifies the specific RASopathy gene variant — enabling cardiac surveillance and growth management tailored to your genetic subtype.
Noonan Syndrome
Noonan syndrome is an autosomal dominant RASopathy affecting approximately 1 in 1,000 to 1 in 2,500 individuals. It is characterized by distinctive facial features (hypertelorism, ptosis, micrognathia, short stature), cardinal cardiac abnormalities, developmental delay, and significantly increased cancer predisposition. Pulmonary stenosis is the most common cardiac manifestation (~60% of NS patients), though hypertrophic cardiomyopathy (HCM) occurs in 10–30%. The disorder sits within a spectrum of genetically related RASopathies that include Costello syndrome, cardiofaciocutaneous syndrome, and neurofibromatosis type 1 — all linked by disrupted RAS/MAPK signaling.
At least 16 RASopathy genes have been identified; PTPN11 (protein tyrosine phosphatase non-receptor type 11) accounts for approximately 50% of Noonan syndrome cases. RAF1 (a MAP kinase kinase) accounts for approximately 10% and is associated with HCM in approximately 75% of RAF1-positive families — making it far more predictive of cardiac involvement than pulmonary stenosis. SOS1 accounts for approximately 10% and is associated with increased perioral freckling and ectodermal features. Approximately 25% of clinically diagnosed Noonan patients remain genetically unresolved, indicating genetic heterogeneity is substantial and new genes continue to be discovered.
Genotype-phenotype correlation directly informs cardiac surveillance and family counseling. PTPN11-positive families should expect pulmonary stenosis as the primary cardiac manifestation; RAF1-positive families should prepare for intensive HCM surveillance and management. SOS1-positive families typically show more favorable disease courses with reduced penetrance in some kindreds. Early developmental support, periodic cardiac echocardiography, and coordinated growth management are standard. Cascade genetic screening identifies first-degree relatives; approximately 50% carry the familial variant. As MEK inhibitor trials progress, genetically confirmed RASopathy patients may qualify for experimental therapies that halt disease progression.
Noonan syndrome genotype strongly predicts cardiac phenotype — PTPN11 predicts pulmonary stenosis, RAF1 predicts hypertrophic cardiomyopathy, and SOS1 predicts milder disease with better outcomes.
Standard Noonan panels test the major genes but miss 25% of patients. Genetic heterogeneity is high and new genes continue to emerge.
The RASopathy gene causing Noonan syndrome may not be on your panel
Standard Noonan syndrome panels typically include PTPN11, RAF1, and SOS1 — capturing the most common mutations. However, at least 16 RASopathy genes have been identified, and approximately 25% of clinically diagnosed Noonan patients receive no molecular diagnosis despite comprehensive testing. Genetic heterogeneity is substantial and continuously evolving. New genes continue to be discovered, making panels outdated rapidly. Whole genome sequencing captures all known RASopathy genes simultaneously and provides complete sequence interrogation, improving diagnostic yield for genetically unresolved cases.
Knowing your RASopathy gene predicts your cardiac and growth trajectory
Genotype-phenotype correlation is meaningful in Noonan syndrome. A PTPN11 variant predicts higher likelihood of pulmonary stenosis — enabling targeted echocardiographic surveillance and early surgical intervention if needed. A RAF1 variant predicts significantly elevated HCM risk (75% of RAF1-positive patients) — these individuals require intensive cardiac follow-up and aggressive HCM management protocols. SOS1 variants point toward milder disease and better neurodevelopmental outcomes. Understanding your genetic subtype informs surveillance intensity, treatment planning, and family cascade screening.
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 Noonan 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
