Alport Syndrome — a progressive kidney disease where early ACE inhibitor therapy delays kidney failure by 10-18 years, but only if the diagnosis is made before proteinuria develops.
Whole genome sequencing evaluates all three Alport genes — COL4A3, COL4A4, and COL4A5 — identifying the specific variant and inheritance pattern that determines renal prognosis and the urgency of nephroprotective therapy.
Alport Syndrome
Alport syndrome is a hereditary nephropathy caused by pathogenic variants in genes encoding type IV collagen — the major structural component of basement membranes in the kidney glomerulus, inner ear, and eye. Three genes are involved: COL4A5 (X-linked, ~80% of cases), COL4A3 (autosomal), and COL4A4 (autosomal). X-linked Alport syndrome is the most common and most severe form: affected males develop progressive hematuria, proteinuria, sensorineural hearing loss, anterior lenticonus, and end-stage renal disease typically by age 25-30 without treatment.
The critical advance in Alport management is that ACE inhibitor therapy — started before proteinuria develops, in patients with isolated hematuria — delays ESRD by approximately 10-18 years. This represents one of the most dramatic examples of genotype-guided preventive therapy in nephrology. However, the benefit depends entirely on early identification: by the time proteinuria develops, significant glomerular damage has already occurred. Most Alport patients are still diagnosed late.
Female carriers of X-linked Alport syndrome were historically described as 'unaffected carriers,' but approximately 30-40% develop proteinuria, 15-30% develop hearing loss, and 12-15% progress to ESRD by age 60. Autosomal recessive Alport syndrome (COL4A3/COL4A4 biallelic variants) produces a similar phenotype in both sexes. Heterozygous COL4A3/COL4A4 carriers may present as 'thin basement membrane nephropathy' — now recognized as a spectrum that includes some carriers who progress to CKD.
Female carriers of X-linked Alport syndrome are frequently symptomatic — approximately 15% reach end-stage renal disease by age 60.
Molecular testing has replaced kidney biopsy as the first-line diagnostic approach for suspected Alport syndrome — less invasive and more informative for genetic counseling.
ACE inhibitors delay kidney failure by 10-18 years — but only if started before proteinuria, requiring early genetic diagnosis
The European Alport Therapy Registry demonstrated that ACE inhibitor therapy initiated during the hematuria-only stage delayed ESRD by a median of 18 years in males with X-linked Alport syndrome. Without molecular diagnosis, most patients receive ACEi therapy only after proteinuria is established. Whole genome sequencing in a child with persistent hematuria can establish the Alport diagnosis and trigger early ACEi initiation during the optimal treatment window.
Thin basement membrane nephropathy is not always benign — COL4A3/A4 heterozygotes can progress to CKD
Thin basement membrane nephropathy was historically considered benign. It is now recognized that approximately 15-20% of COL4A3/A4 heterozygotes develop meaningful proteinuria or CKD by middle age. Molecular diagnosis reclassifies 'benign TBMN' as carrier Alport status, warranting longitudinal renal monitoring and appropriate genetic counseling for family members.
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 Alport Syndrome 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
