Polycystic Kidney Disease — affecting 1 in 1,000, ADPKD is the most common life-threatening genetic kidney disease, and PKD1 vs. PKD2 genotype determines progression rate and when kidney failure occurs.
Whole genome sequencing evaluates PKD1, PKD2, and additional cystic kidney disease genes — providing the molecular diagnosis that predicts progression, guides tolvaptan eligibility, and enables family screening.
Polycystic Kidney Disease — Genetic Testing
Autosomal dominant polycystic kidney disease (ADPKD) affects approximately 1 in 1,000 individuals — making it the most common life-threatening monogenic kidney disease. PKD1 (chromosome 16p13.3) accounts for ~85% of cases with more severe disease (median ESRD at age 54). PKD2 (chromosome 4q22.1) accounts for ~15% with milder disease (median ESRD at age 74). This 20-year difference in kidney failure timeline makes genotyping critical for prognosis and planning.
Tolvaptan (Jynarque, V2 receptor antagonist) is FDA-approved to slow kidney growth and decline in eGFR in ADPKD. Tolvaptan eligibility requires evidence of rapidly progressive disease — PKD1 genotype with truncating mutations predicts rapid progression and supports tolvaptan initiation. PKD2 patients with slow progression may not benefit from tolvaptan's side effects (massive aquaresis, hepatotoxicity monitoring).
PKD1 sequencing is technically challenging due to six PKD1-like pseudogenes (PKD1P1-P6) sharing >97% homology with PKD1 exons 1-34. Standard NGS panels may mismap reads between PKD1 and pseudogenes. Long-range PCR-based enrichment or whole-genome approaches with sophisticated bioinformatics improve PKD1 variant detection accuracy.
PKD1 truncating mutations = median ESRD at 54. PKD2 = median ESRD at 74. This 20-year difference drives treatment urgency, transplant planning, and tolvaptan eligibility. Genotype predicts your kidney future.
PKD1 has pseudogenes confounding standard testing. PKD1 vs. PKD2 genotype predicts a 20-year difference in kidney failure. WGS improves PKD1 testing accuracy.
PKD1 pseudogenes confound standard testing — WGS provides superior variant detection in this technically challenging gene
Six PKD1 pseudogenes share >97% sequence with PKD1, causing variant misassignment in standard NGS. WGS reads the full genomic context, improving PKD1 variant detection accuracy. This is particularly important because PKD1 truncating vs. non-truncating variants have different prognostic implications.
Tolvaptan eligibility depends on rapid progression prediction — PKD1 truncating mutations predict who benefits most
Tolvaptan has significant side effects (aquaresis, liver monitoring). PKD1 truncating mutations predict rapid progression, supporting tolvaptan use. PKD2 patients with slow progression may tolerate watchful waiting. Molecular genotyping enables individualized treatment decisions.
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.
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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 — Genetic Testing 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
