JAK2 Mutation — present in >95% of polycythemia vera, the JAK2 V617F mutation defines the diagnosis and unlocks JAK2 inhibitor therapy that has transformed myeloproliferative neoplasm management.
Whole genome sequencing evaluates JAK2 V617F, JAK2 exon 12 variants, and additional MPN genes (CALR, MPL) — providing comprehensive molecular evaluation for myeloproliferative neoplasm diagnosis and treatment selection.
JAK2 Mutation — Myeloproliferative Neoplasms
The JAK2 V617F mutation (valine to phenylalanine at position 617) is a somatic gain-of-function mutation in the Janus kinase 2 gene found in >95% of polycythemia vera (PV), 50-60% of essential thrombocythemia (ET), and 50-60% of primary myelofibrosis (PMF). Discovery of JAK2 V617F in 2005 revolutionized MPN diagnosis and treatment. The mutation activates the JAK-STAT signaling pathway constitutively, driving proliferation of myeloid cells independent of growth factor signaling.
JAK2 inhibitors have transformed MPN management. Ruxolitinib (Jakafi), the first FDA-approved JAK1/2 inhibitor (2011), produces significant improvement in splenomegaly, constitutional symptoms (night sweats, weight loss, fatigue), and quality of life in myelofibrosis and PV. Fedratinib (Inrebic) is approved for intermediate/high-risk myelofibrosis. Pacritinib (Vonjo) is approved for myelofibrosis with thrombocytopenia. These targeted therapies are available regardless of JAK2 mutation status but were developed from understanding JAK2 V617F biology.
JAK2 V617F is primarily a somatic (acquired) mutation — it arises in hematopoietic stem cells and is not inherited. However, familial predisposition to MPNs is well-documented — first-degree relatives of MPN patients have 5-7x increased risk. Germline variants in JAK2 (46/1 haplotype), TERT, and other genes predispose to somatic MPN development. A rare germline JAK2 V617I variant causes hereditary erythrocytosis. WGS evaluates both somatic MPN mutations (when performed on blood) and germline predisposition variants.
JAK2 V617F is primarily somatic (acquired), but familial MPN clustering is real — first-degree relatives have 5-7x increased risk. The JAK2 46/1 germline haplotype predisposes to acquiring the V617F mutation.
JAK2 V617F testing is central to MPN diagnosis. WGS provides JAK2 V617F detection alongside CALR, MPL, and germline MPN predisposition variants — the complete MPN molecular workup in one test.
JAK2 V617F is required for WHO PV diagnosis — and JAK2 inhibitors provide symptom relief even in V617F-negative MPNs
WHO diagnostic criteria for PV require either JAK2 V617F or exon 12 mutation. ET and PMF diagnosis uses JAK2, CALR, or MPL mutations as major criteria. WGS evaluates all three gene targets simultaneously, providing WHO-compliant molecular diagnosis. JAK2 inhibitors (ruxolitinib) are effective for symptom relief regardless of molecular subtype — but molecular diagnosis is essential for accurate classification and prognosis.
JAK2 V617F allele burden correlates with disease severity and transformation risk — quantitative assessment guides prognosis
Higher JAK2 V617F allele burden (the percentage of cells carrying the mutation) correlates with increased risk of thrombosis, progression from ET to PV, and transformation to myelofibrosis or acute leukemia. Serial monitoring of allele burden can assess treatment response. WGS provides quantitative allele burden assessment alongside comprehensive molecular evaluation.
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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.
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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.
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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.
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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.
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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.
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Dante Labs works with patient advocacy groups of any size — for JAK2 Mutation — Myeloproliferative Neoplasms and other conditions, rare and common. We support groups in any country, including virtual patient advocacy groups.
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Ships within 48 hours · Results in 6–8 weeks
