Easy bruising that runs in the family. Low platelets no one can explain. A single gene variant that connects both — and defines the monitoring plan that matters.
Whole genome sequencing identifies RUNX1 variants — enabling hematologic surveillance protocols that detect early changes and guide clinical decisions.
RUNX1 Familial Platelet Disorder
RUNX1-FPD is a rare autosomal dominant disorder caused by RUNX1 haploinsufficiency (loss of one allele). RUNX1 encodes runt-related transcription factor 1, a master regulator of hematopoietic stem cell development and differentiation. Loss-of-function RUNX1 variants impair megakaryopoiesis and myelopoiesis, causing mild-to-moderate thrombocytopenia (platelet count 25,000–100,000/μL) and qualitative platelet defects. More critically, RUNX1 haploinsufficiency increases risk for acquisition of somatic mutations in other myeloid tumor suppressors, driving a dramatically elevated lifetime risk of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) — 35–65% by late adulthood, far exceeding general population risk.
RUNX1-FPD is massively underdiagnosed because mild-to-moderate thrombocytopenia is common and typically does not trigger genetic testing. Approximately 130 families have been described in the literature, but true prevalence is likely significantly underestimated. Over 60 distinct RUNX1 mutations have been identified in FPD kindreds. The disorder is often misattributed to immune thrombocytopenia or benign familial thrombocytopenia, causing delayed or missed diagnosis of the cancer predisposition component. The primary clinical challenge is surveillance for early MDS/AML development, enabling preventive intervention before malignant transformation becomes irreversible.
A confirmed RUNX1 pathogenic variant diagnosis fundamentally changes management from benign thrombocytopenia to a cancer predisposition condition requiring aggressive surveillance. Affected individuals require annual complete blood counts (CBC) with differential and peripheral blood smear review to detect early signs of MDS (dysplastic changes, cytogenetic abnormalities like monosomy 7, or other clonal abnormalities) or AML. Bone marrow evaluation is indicated if cytopenias worsen or dysplastic features emerge. Medication counseling is critical — aspirin and NSAIDs should be avoided to minimize bleeding risk. If MDS or AML develops, allogeneic stem cell transplantation is the primary curative option. Cascade screening of all first-degree relatives is essential — approximately 50% carry the familial variant. Genetic diagnosis transforms a seemingly benign diagnosis into an actionable cancer predisposition condition.
RUNX1 is not routinely screened in broad panels. Mild thrombocytopenia is common, so familial FPD is frequently missed until MDS or AML develops.
RUNX1-FPD is massively underdiagnosed because thrombocytopenia is nonspecific
RUNX1-FPD is rarely detected because mild-to-moderate thrombocytopenia is common and typically does not trigger genetic testing. Standard hematology workup frequently attributes it to immune causes or benign familial thrombocytopenia, missing the cancer predisposition component entirely. RUNX1 is not routinely screened in broad genetic panels. Clinical phenotyping — distinguishing RUNX1-FPD (which carries 35–65% lifetime cancer risk) from benign familial thrombocytopenia — requires targeted genetic testing. Approximately 130 families have been described, but many cases remain undiagnosed. Whole genome sequencing would improve diagnostic yield in patients with unexplained thrombocytopenia and family history.
A genetic diagnosis transforms management from benign to oncologic surveillance
A confirmed RUNX1 pathogenic variant diagnosis mandates aggressive surveillance: annual CBC with differential and peripheral blood smear review are essential to detect early signs of MDS or AML. Bone marrow evaluation is indicated if cytopenias worsen or dysplastic features emerge. This is not optional — the genetic diagnosis carries a 35–65% lifetime risk of hematologic malignancy. If MDS or AML develops, allogeneic stem cell transplantation is the primary curative option. Cascade family screening is critical; approximately 50% of first-degree relatives carry the variant. Genetic diagnosis transforms a seemingly benign diagnosis of mild thrombocytopenia into an actionable cancer predisposition condition requiring lifelong vigilance.
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 RUNX1 Familial Platelet Disorder 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
