Whole genome testing for children with an unknown genetic cause
Part of Genetic & congenital clinical trials.
This study uses whole genome sequencing (a complete DNA readout) to look for a genetic reason why a child’s medical symptoms are happening. It’s mainly for children who have had at least one test but still do not have a clear diagnosis, and it may help doctors find the right diagnosis or next steps.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are a parent/guardian and can consent for your child to join research
- Your child is between 0 and 21 years old
- Your child has symptoms and a medical problem that doctors think could be genetic
- Your child has had at least one prior test but still no definite diagnosis
- Your child’s case fits the idea that genetics could explain it (and no prior diagnosis already explains everything)
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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