P005: Validation of a multiplex LC-MS/MS assay for newborn screening for MPS II, IVA, VI, and VII in dried blood spots*
Conclusion:LGB1 analysis achieves separation of neuronopathic from non-neuronopathic GBA genotypes.With over 500 GBA variants reported in GD, obtaining LGB1 levels either as a second-tier NBS test or following an abnormal NBS for GD should be useful to reduce false positive NBS results and timely elucidation of abnormal NBS results.
Authors
- Brooke Migliore (ORCID: https://orcid.org/0000-0003-0991-8371)
- Katerina S. Kucera (ORCID: https://orcid.org/0000-0003-4148-6599)
- Sarah Blake (ORCID: https://orcid.org/0000-0001-7286-3137)
- Eustace Thorp
- Julia Apoian
- Kirstyn Tober
Institutions
- RTI International (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102849
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00