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Undiagnosed Childhood Diseases

The IGM’s precision medicine initiative in unresolved and undiagnosed childhood genetic disease will ensure that all children seen at NYP with undiagnosed or unresolved genetic diseases will be offered comprehensive genomic analyses, including exome sequencing.

Comprehensive genomics has arguably had the greatest clinical impact to date in providing and securing diagnoses for children with previously undiagnosed and unresolved genetic diseases. The rate of successful diagnosis using whole exome sequencing in children with serious genetic diseases ranges from 25 – 50%, making exome sequencing the most effective genetic diagnostic approach available.