Can genetic testing diagnose endometriosis?

No—at this time, there isn’t a validated clinical genetic test or polygenic risk score that can diagnose endometriosis or replace a proper medical evaluation. Genetics may help researchers understand risk over time, but it doesn’t reliably confirm or rule out disease in an individual patient today.

In practice, we diagnose and plan care by putting your symptom history together with a focused pelvic exam and targeted imaging when appropriate. High-quality ultrasound and MRI can be especially useful for mapping suspected disease and guiding next steps, and our team can help you understand what testing is most likely to be informative for your specific symptoms and goals.