1. Verification of screening method for 6-plex lysosomal storage diseases using Perkin Elmer QSight 210MD system
Main Article Content
Abstract
Method verification is a mandatory process to provide reliable test results. This study was conducted with the aim of confirming the technical procedure for screening 6 lysosomal storage disorders by measuring the activity of 6 enzymes in dried blood spots using the Perkin Elmer QSight 210MD system. The research utilized internal control materials and NeoLSDTM MSMS kits from Perkin Elmer to perform an evaluation experiment for precision and accuracy, following the EP15A3 guidelines of the CLSI. Results: The precision and accuracy of the test are both lower than the manufacturer's specifications, with the observed average values falling within the acceptable range. The precision and accuracy of the enzyme activity measurements under the conditions of the Department of Biochemistry, National Children's Hospital, are confirmed to be in accordance with the manufacturer's specifications. The test ensures reliability and can be used to provide newborn screening services.
Article Details
Keywords
LSDs, ABG, ASM, GAA, GALC, GAL, IDUA, verification of screening method, EP15-A3
References
2. Chamoles N A, Blanco M B, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clinical chemistry. 2001;47(12):2098-2102.
3. Platt F M, Boland B, van der Spoel A C. Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. The Journal of Cell Biology. 2012;199(5):723-734.
4. Rajkumar V, Dumpa V. Lysosomal storage disease. StatPearls. 2020.
5. Schultz M L, Tecedor L, Chang M, et al. Clarifying lysosomal storage diseases. Trends in Neurosciences. 2011;34(8):401-410.
6. Gelb M H, Scott C R, Turecek F. Newborn Screening for Lysosomal Storage Diseases. Clinical Chemistry. 2014;61(2):335-346.
7. Hwu W L, Chien Y H, Lee N C, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Human Mutation. 2009;30(10):1397-1405.
8. Mashima R, Sakai E, Kosuga M, et al. Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry. Molecular Genetics and Metabolism Reports. 2016;9:6-11.
9. Clinical and Laboratory Standards Institute. User verification for precision and trueness. Approved guideline - 3rd (ed). CLSI document EP15 - A3. 2014;34(12).