Using RNA tests to help diagnose rare genetic diseases
Part of Blood & lymphatic, Genetic & congenital, Immune system & allergy, Kidney & urinary, Women’s health & pregnancy clinical trials.
This study uses RNA sequencing to find genetic causes of rare diseases that standard DNA tests might miss. It may help people who have symptoms of a rare disease but no clear genetic diagnosis yet.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are an adult (18 or older) if you are a healthy volunteer or have a known genetic disease.
- You have a rare genetic disease that is still undiagnosed even after standard genetic tests.
- You must be able to understand the risks and benefits of the study.
- You or your guardian must sign a consent form to participate.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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