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

• Egile Nagusiak: Laurie D. Smith (Egilea), Matthew N. Bainbridge (Egilea), Richard B. Parad (Egilea), Arindam Bhattacharjee (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2020-04-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...