Long-read DNA testing for rare disease diagnosis
Part of Brain & nervous system, Eyes & vision, Genetic & congenital, Hormones & metabolism, Mental health, Skin clinical trials.
This trial uses advanced DNA testing to look for the genetic causes of certain rare diseases, including some intellectual development disorders and albinism. It may help people who haven't gotten a clear genetic answer from standard testing.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have DNA or a frozen blood sample already stored at the study's genetics lab.
- You must have either a specific type of intellectual development disorder (with certain age and symptom criteria) or albinism (with certain clinical signs).
- Previous genetic testing (like gene panels or exome sequencing) must have been inconclusive or found only one copy of a disease-causing variant in a recessive disease gene.
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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