The purposes of Undiagnosed Diseases Programs (UDPs) are to provide patients with an unknown genetic condition a diagnosis and to find the correlation between genotype and phenotype; to share globally the information to facilitate the diagnosis through a matchmaking for finding possible second cases

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The purpose of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible and possibly before onset of symptoms. Such detection allows the early treatment which may significantly modify the natural history of the disease and potentially prevent developmental delays, physical disabilities and eventually death.

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