Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

• Autors principals: Laurie D. Smith (Autor), Matthew N. Bainbridge (Autor), Richard B. Parad (Autor), Arindam Bhattacharjee (Autor)
• Format: Llibre
• Publicat: MDPI AG, 2020-04-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots (DBS). As first tier enzymatic screening tests have false positive results, an immediate second tier test on the same sample is critica...