Endometriosis Genetic Risk — affecting 1 in 10 women of reproductive age with approximately 50% heritability and an average diagnostic delay of 7-10 years, where genetic risk awareness can accelerate the path to diagnosis and treatment.
Whole genome sequencing evaluates all identified endometriosis risk variants — WNT4, GREB1, CDKN2B-AS1, ESR1, and 40+ GWAS loci — providing a genetic risk profile that supports clinical suspicion in the setting of chronic pelvic pain and infertility.
Endometriosis — Genetic Risk
Endometriosis is a chronic inflammatory condition in which endometrial-like tissue grows outside the uterus — on the peritoneum, ovaries, bowel, bladder, and occasionally at distant sites. It affects approximately 190 million women worldwide (~10% of reproductive-age women), causing chronic pelvic pain, dysmenorrhea, dyspareunia, and infertility. Despite its prevalence, endometriosis has an average diagnostic delay of 7-10 years from symptom onset — one of the longest diagnostic delays of any common condition — because symptoms overlap with many other conditions and definitive diagnosis historically required laparoscopic surgery.
Endometriosis has strong genetic underpinnings — approximately 50% heritability based on twin studies, with first-degree relatives of affected women having 7-10x increased risk. Genome-wide association studies have identified >40 risk loci, including WNT4 (a key regulator of female reproductive tract development), GREB1 (a growth regulator involved in estrogen signaling), CDKN2B-AS1 (cell cycle regulation, also associated with endometrial cancer risk), ESR1/ESR2 (estrogen receptors), VEZT (cell adhesion), and FN1 (fibronectin — extracellular matrix remodeling). Polygenic risk scores combining these variants can identify women at 2-4x elevated relative risk.
While endometriosis is polygenic (no single gene is causative), genetic risk profiling has important clinical utility. In a woman presenting with chronic pelvic pain and infertility, elevated genetic risk for endometriosis can support clinical suspicion and accelerate referral for specialist evaluation — potentially reducing the devastating 7-10 year diagnostic delay. Additionally, emerging evidence suggests that genetic subtypes of endometriosis may respond differently to hormonal therapies (GnRH agonists, aromatase inhibitors, progestins) and surgical approaches — early steps toward genetically informed endometriosis treatment.
First-degree relatives of women with endometriosis have 7-10x increased risk. If you have a mother or sister with endometriosis and experience chronic pelvic pain, genetic and clinical evaluation should not wait for the typical 7-10 year diagnostic delay.
Endometriosis takes 7-10 years to diagnose on average. Genetic risk profiling can support earlier clinical suspicion in women with symptoms — cutting through the diagnostic delay that causes years of unnecessary suffering.
Genetic risk profiling accelerates the diagnostic pathway — reducing the 7-10 year delay that characterizes endometriosis diagnosis
Women with symptoms suggestive of endometriosis (chronic pelvic pain, painful periods, painful intercourse, infertility) often see multiple physicians over many years before the diagnosis is made. An elevated polygenic risk score for endometriosis — particularly in combination with family history — provides objective genetic evidence supporting clinical suspicion and specialist referral. This genetic information shifts the clinical calculation from 'watch and wait' toward 'investigate and treat' — potentially eliminating years of diagnostic limbo.
Emerging evidence links endometriosis genetic subtypes to differential treatment response — the foundation for precision endometriosis medicine
Preliminary research suggests that endometriosis associated with specific genetic risk variants may respond differently to hormonal therapies. WNT4 pathway-associated endometriosis may have different biology than GREB1/estrogen-signaling-associated endometriosis — with potential implications for choice between progestins, GnRH agonists, and aromatase inhibitors. While this pharmacogenomic endometriosis research is still emerging, establishing a patient's complete genetic profile through WGS creates a permanent resource for ongoing clinical reanalysis as precision endometriosis medicine matures.
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 Endometriosis — Genetic Risk 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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We'll be in touch within 2 business days. To follow up directly: hello@dantelabs.com
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
