Feasibility of Screening for Chromosome 15 Imprinting Disorders

January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

David E. Godler, PhD1,2,3Ling Ling, MD1Dinusha Gamage, MS1et al

Key Points

Question  Is newborn screening feasible for chromosome 15 imprinting disorders, including Prader-Willi, Angelman, and Dup15q syndromes, using SNRPN methylation analysis?

Findings  This diagnostic study involved vali