Looking for rare disease genes in your DNA
This study will read the DNA (the genetic instructions) of people with rare diseases who do not yet have a diagnosis, to try to find the cause. It may help you get answers about your condition.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a rare genetic disease
- Your doctor has not yet found the genetic or clinical cause
- Your doctor at Gaslini thinks more testing could help
- You and your family agree to join, including giving a DNA sample for whole exome or genome sequencing
- You have not had whole genome sequencing before
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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