Polycystic Kidney Disease — the most common life-threatening genetic disease, affecting 1 in 400-1,000, where the specific PKD1 or PKD2 genotype predicts kidney failure timeline by decades and determines tolvaptan eligibility.
Whole genome sequencing resolves the complete PKD1 gene — including accurate mapping through its 6 pseudogenes that confound standard sequencing — and PKD2, providing the genotype that predicts ESRD timeline and treatment response.
Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and one of the most common life-threatening genetic conditions, affecting approximately 1 in 400-1,000 people — an estimated 12.5 million individuals worldwide. ADPKD is caused by pathogenic variants in PKD1 (~78% of cases, chromosome 16p13.3) or PKD2 (~15%, chromosome 4q22.1), encoding polycystin-1 and polycystin-2 respectively. These proteins form a calcium-permeable channel complex that senses fluid flow in the primary cilium of renal epithelial cells. Progressive bilateral renal cyst development leads to massive kidney enlargement and eventual end-stage renal disease.
ADPKD causes progressive bilateral renal cyst growth over decades, producing flank pain, hematuria, hypertension, urinary tract infections, and nephrolithiasis. Hepatic cysts develop in approximately 80% of patients and are typically asymptomatic but can cause massive hepatomegaly in some women. Intracranial aneurysms occur in approximately 8% of ADPKD patients (vs 2-3% in the general population) — rupture causes subarachnoid hemorrhage with high mortality. Mitral valve prolapse, colonic diverticulae, and inguinal hernias are associated features. The mean age of ESRD is approximately 54 years for PKD1 and 74 years for PKD2 — a 20-year difference determined entirely by genotype.
Tolvaptan (Jynarque), a vasopressin V2 receptor antagonist, was FDA-approved in 2018 for ADPKD in adults at risk of rapid progression. Tolvaptan reduces the rate of total kidney volume growth and slows eGFR decline, delaying ESRD. The FDA label specifically targets rapidly progressing ADPKD — typically PKD1 truncating variants, which produce the fastest progression. The Mayo imaging classification (htTKV) combined with molecular genotype provides the most accurate risk stratification for tolvaptan treatment decisions. Additionally, screening for intracranial aneurysms (brain MRA) is recommended for ADPKD patients with family history of aneurysm or subarachnoid hemorrhage.
PKD1 truncating variants (frameshift, nonsense, splice disrupting) cause ESRD approximately 12 years earlier than PKD1 non-truncating (missense) variants. The specific variant type refines prognosis beyond simply PKD1 vs PKD2.
PKD1 has 6 highly homologous pseudogenes on the same chromosome that confound standard sequencing. Long-read-informed whole genome sequencing maps through the pseudogene region to identify true PKD1 pathogenic variants.
PKD1 vs PKD2 determines a 20-year difference in ESRD onset — genotype is the strongest predictor of renal prognosis
Mean age of ESRD is approximately 54 years for PKD1 pathogenic variants and approximately 74 years for PKD2 pathogenic variants — making molecular genotype the single strongest predictor of renal prognosis in ADPKD, superior to baseline kidney volume, age, or eGFR slope alone. Furthermore, PKD1 truncating variants cause ESRD approximately 12 years earlier than PKD1 non-truncating variants, adding additional prognostic refinement. This information directly affects clinical decision-making: tolvaptan initiation timing, blood pressure targets, family planning discussions, and living donor kidney transplant timing all depend on the predicted ESRD timeline.
Tolvaptan eligibility requires rapid progression assessment — genotype is a key component of the risk model
The FDA label for tolvaptan (Jynarque) targets ADPKD patients at risk of rapid progression. The PROPKD score, which incorporates molecular genotype (PKD1 truncating = highest score) alongside clinical variables (sex, hypertension onset, urological events), predicts rapid progression with validated accuracy. Patients with a low PROPKD score (typically PKD2 or PKD1 non-truncating variants) may not be candidates for tolvaptan — avoiding the medication's significant side effects (polyuria, polydipsia, hepatotoxicity monitoring) in patients unlikely to benefit. Whole genome sequencing provides the molecular input for this risk-stratification model.
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 Polycystic Kidney Disease 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.
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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
