Cascade testing in mitochondrial diseases: a cross-sectional retrospective study
The demand for cascade testing in mitochondrial diseases varies according to the genotype and inheritance pattern. The real-time uptake of cascade testing can be influenced by multiple factors. Early diagnosis of at-risk biological relatives of index cases through cascade testing, confirms the diagnosis in those who are symptomatic and facilitates implementation of surveillance strategies and clinical care at an early stage of the disease.
Authors
- Sameen Haque (ORCID: https://orcid.org/0000-0002-6204-6640)
- Carolyn M. Sue (ORCID: https://orcid.org/0000-0003-1255-3617)
- DEBORAH J. SCHOFIELD (ORCID: https://orcid.org/0000-0002-1658-494X)
- Karen Crawley
- Rupendra N. Shrestha (ORCID: https://orcid.org/0000-0001-5455-0735)
Institutions
- Royal North Shore Hospital (AU)
- Nepean Hospital (AU)
- UNSW Sydney (AU)
- Neuroscience Research Australia (AU)
- Macquarie University (AU)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1186/s12883-024-03850-6
- Citations
- 3
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.70