Assessing the Accuracy of the NeuroBooster Array for GBA1 Variant Detection
GBA1 variants are major Parkinson's disease risk factors, but their detection is challenging. We compared NeuroBooster Array (NBA) genotyping with reference sequencing in 3,744 individuals. NBA correctly identified 520/608 carriers (85.5%). Of 89 missed calls, 73 had no matching probe and 16 had missing calls. 25 participants had false positive calls. NBA should not be used alone for clinical decisions, but is very useful for case control analysis.
Authors
- Raquel Real (ORCID: https://orcid.org/0000-0001-8117-742X)
- Paola Dimartino (ORCID: https://orcid.org/0000-0002-6521-1082)
- Marco Toffoli (ORCID: https://orcid.org/0000-0002-3255-9648)
- Lara Mariah Lange (ORCID: https://orcid.org/0000-0002-7162-9821)
- Laurel A. Screven (ORCID: https://orcid.org/0009-0007-8630-6754)
- Aaron R. Jeffries (ORCID: https://orcid.org/0000-0002-1235-8291)
- Enza Maria Valente (ORCID: https://orcid.org/0000-0002-0600-6820)
- Cornelis Blauwendraat (ORCID: https://orcid.org/0000-0001-9358-8111)
- Ilaria Palmieri (ORCID: https://orcid.org/0000-0002-0304-7299)
- Huw R. Morris (ORCID: https://orcid.org/0000-0002-5473-3774)
- Selen Yalkic (ORCID: https://orcid.org/0000-0002-9811-6612)
- Global Parkinson s Genetic Program (GP2)
- Amelia Anderson
- Anthony HV Schapira
- Jakub Stepniak
- Georgia Pittwood
- Finlay Fraser
Institutions
- National Institutes of Health (US)
- University of Exeter (GB)
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT)
- National Institute on Aging (US)
- UCL Queen Square Institute of Neurology (GB)
- University College London (GB)
Publication Details
- Journal
- medRxiv
- Published
- 2026-11-11
- DOI
- https://doi.org/10.64898/2026.11.10.26367159
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- preprint