Revisiting test results for children and adults without a diagnosis
Part of Genetic & congenital clinical trials.
This study re-checks earlier genetic testing for people who still do not have a diagnosis for a developmental or physical difference. It may offer new genetic testing (like genome sequencing) using new or stored samples to help find a cause when the first results were unclear or negative.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your child) have a developmental or physical difference and still no diagnosis from earlier evaluations
- You agree to do more genetic testing, which may require new blood samples (or using stored samples)
- Your genetic report shows a change in DNA called a CNV that was “uncertain” or “probably harmless” and may be reanalyzed
- If you fit a specific syndrome list (like Noonan, CHARGE, Kabuki, Cornelia de Lange, or Rubinstein-Taybi), your earlier gene test did not find the cause
- You are covered by France’s national health insurance (or you are a beneficiary of that system)
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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