Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

ABSTRACT: Newborn screening for classical galactosemia in the Netherlands is performed by five laboratories and is based on the measurement of galactose 1-phosphate-uridyltransferase (GALT) activity and total galactose (TGAL) in heel prick blood spots. Unexpected problems with the GALT assay posed a challenge to switch to a new assay. The aim of this study was to make an analytical and clinical evaluation of GALT assays to replace the current assay and to establish new cut-off values (COVs).First, the manual assay from PerkinElmer (NG-1100) and the GSP assay were compared by analyzing 626 anonymous heel prick samples in parallel. Secondly, a manual GSP method was evaluated and 2,052 samples were compared with the automated GSP assay. Finally, a clinical evaluation was performed by collecting data fr

SUBMITTER: Kemper EA 

PROVIDER: S-EPMC5362554 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature