Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries
To identify REs in the ATXN3 gene by validating WGS with previously inconclusive genetic tests, the study propose that WGS could potentially be implemented as the frontline, cost-effective, less turnaround time molecular testing for more accurate diagnoses and better-informed treatment strategies.
Authors
- Udhaya Kotecha (ORCID: https://orcid.org/0000-0001-5648-4751)
- Nidhi Shah (ORCID: https://orcid.org/0000-0002-7832-1264)
- Bushra Jarullah
- Hrishikesh Kumar (ORCID: https://orcid.org/0000-0002-9789-7832)
- Mehul Mistri (ORCID: https://orcid.org/0000-0003-1872-291X)
- Parth Shah (ORCID: https://orcid.org/0000-0003-2506-9525)
Institutions
- Dartmouth–Hitchcock Medical Center (US)
- Kadi Sarva Vishwavidyalaya (IN)
Publication Details
- Journal
- Neurology India
- Published
- 2025-03-28
- DOI
- https://doi.org/10.4103/neurol-india.neurol-india-d-24-00552
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00