Genome sequencing for kids with undiagnosed rare diseases
Part of Genetic & congenital clinical trials.
This study offers genome sequencing (a complete look at your child's DNA) to help diagnose a suspected rare disease faster. It's for children who are newly referred to the genetics clinic at SickKids or CHEO and haven't had this type of testing before.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Your child is 18 years old or younger.
- You've been referred to the Genetics Clinic at SickKids or CHEO and the referral was accepted within the last 7 days.
- The reason for referral is a suspected rare disease that hasn't been diagnosed yet, and doctors think genetic testing might help.
- Your child hasn't already had broad genetic testing (whole exome or genome sequencing) for this condition.
- Your child has Ontario Health Insurance Plan (OHIP) or similar coverage for standard genetic tests.
- You are willing to provide informed consent to join the study within 2 weeks of being asked.
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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