Oireachtas Joint and Select Committees
Wednesday, 26 May 2021
Joint Oireachtas Committee on Health
Rare Diseases: Discussion
Dr. Sally Ann Lynch:
Yes, for sure. It is approximately 60%. A diagnosis can probably be made in 40% of cases with the latest test. That is 40% of children with significant problems.
If one is seeing a child with a milder clinical picture, it will drop down to perhaps approximately 20%. A higher percentage will not have a diagnosis despite testing.
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