Early genomic testing prevents years of inconclusive visits for pediatric patients
Andreea Neblea
Fondazione Telethon Apr 21 2026 For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over. A study published in Genetics in Medicine Open , the journal of the American College of Medical Genetics and Genomics, presents the results of the TUDP across its first eight years (
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