Bleeding that doesn't stop the way it should — a clotting factor your body can't produce enough of. Identifying the exact variant determines which therapy works and how your family carries the trait.
Whole genome sequencing identifies F8 and F9 variants that cause bleeding disorders — enabling appropriate factor replacement therapy and inhibitor risk stratification.
Hemophilia A & B
Hemophilia A and B are X-linked recessive bleeding disorders caused by mutations in F8 (factor VIII) and F9 (factor IX) respectively. These genes encode essential coagulation factors that form the intrinsic tenase complex — a critical step in the coagulation cascade. Loss-of-function F8 or F9 variants impair thrombin generation and clotting efficiency, causing spontaneous and trauma-induced bleeding. Hemophilia A affects approximately 1 in 5,000 males; Hemophilia B affects approximately 1 in 30,000 males. Severity correlates with factor levels: severe (<1% activity), moderate (1–5%), and mild (>5–40%). Clinical manifestations include hemarthroses (joint bleeds), muscle hematomas, intracranial hemorrhage, and spontaneous bleeding in severe forms.
Approximately 50% of severe Hemophilia A cases are caused by a single recurrent mutation — an intron 22 inversion (Inv22) — which disrupts F8 structure through intrachromosomal recombination. Over 2,500 F8 variants and over 1,100 F9 variants have been identified. Carrier females may express mild bleeding symptoms due to skewed X-inactivation (lyonization). Approximately 30% of Hemophilia A patients develop inhibitor antibodies (alloimmunization) against factor VIII during treatment — a serious complication requiring specialized management with activated prothrombin complex concentrate (aPCC) or recombinant factor VIII with high-dose bypassing activity. Inhibitor development is particularly common in severe Hemophilia A patients with Inv22 mutations.
A confirmed F8 or F9 pathogenic variant enables appropriate factor replacement therapy — dramatically improving outcomes through recombinant or plasma-derived factor VIII or IX. Severity classification (severe, moderate, mild) based on factor levels and variant type informs management intensity. Prophylactic factor replacement prevents hemarthroses and enables normal activity. Extended half-life factor products now reduce infusion burden substantially. Severe hemophilia A patients with Inv22 mutations face particularly high inhibitor development risk — immune tolerance therapy (high-dose factor replacement) may prevent or overcome inhibitor formation. Genetic diagnosis enables identification of female carriers, who may have bleeding symptoms and require testing and counseling.
The F8 intron 22 inversion (Inv22) causes approximately 50% of severe Hemophilia A — a structural variant that requires specialized detection methods and predicts high inhibitor development risk.
Standard hemophilia panels may miss large deletions and structural variants. The F8 intron 22 inversion requires specialized detection — standard short-read sequencing is insufficient.
The F8 intron 22 inversion requires specialized detection methods
Hemophilia detection relies on specialized F8/F9 testing. Large deletions (common in hemophilia) may not be detected by exome sequencing alone; multiplex ligation-dependent probe amplification (MLPA) is often required. The Inv22 inversion — responsible for approximately 50% of severe Hemophilia A cases — is caused by intrachromosomal recombination between introns 22 and 1 and cannot be detected reliably by standard short-read Genome Test. Detection of Inv22 requires long-range PCR, Southern blot, or long-read sequencing. Whole genome sequencing with long-read capacity and supplementary structural variant analysis can detect Inv22 and large deletions that standard approaches miss.
Genetic subtype predicts inhibitor risk and guides prophylaxis intensity
An F8 or F9 pathogenic variant diagnosis enables appropriate factor replacement therapy and risk stratification. Severe hemophilia A patients with Inv22 mutations face approximately 30–40% risk of inhibitor antibody development — alloimmunization that requires specialized bypassing therapy. Immune tolerance therapy (high-dose factor replacement) may prevent or overcome inhibitor formation, but identifying Inv22 mutations early is critical for preventive strategies. Genetic diagnosis enables identification of female carriers, who may have bleeding symptoms. Prophylactic factor replacement prevents hemarthroses and enables normal physical activity.
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 Hemophilia A & B 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
