Genetic testing study for rare diseases with an unclear cause
Treatments studied
This study looks for a genetic (DNA) explanation for rare diseases when usual genetic testing hasn’t found an answer. It may help by re-analyzing prior results and comparing them with parents’ DNA to better pinpoint the cause.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your legal guardian) agree in writing to take part in the study
- Your rare disease diagnosis still doesn’t have a clear molecular/genetic cause
- Your doctors suspect genetics, but a previous DNA test called exome reanalysis was negative
- Both biological parents are available for a “trio” DNA study (you plus mom and dad)
- You must be covered by national health insurance
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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