Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?

CONCLUSIONS: Incorporation of molecular testing could improve the accuracy of CAH NBS, although some distinct challenges of molecular testing may need to be considered before implementation by NBS programs.PMID:38701341 | DOI:10.1210/clinem/dgae297

Source: The Journal of Clinical Endocrinology and Metabolism - May 3, 2024 Category: Endocrinology Authors: Kyriakie Sarafoglou Amy Gaviglio Carrie Wolf Cindy P Lorentz Aida Lteif Jennifer Kyllo Gretchen Radloff Zachary Detwiler Carla D Cuthbert James S Hodges Scott D Grosse Christopher N Greene Suzanne Cordovado Source Type: research