Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
Variants in nuclear and mitochondrial genomes equally contributed to a 14.6% diagnostic yield in this patient cohort. Dual genome NGS testing provides a comprehensive framework for diagnosing mitochondrial disorders, offering clinical utility that can be considered as first-tier approach compared to single genome testing. Characterizing disease-causing genes, variants, and mtDNA heteroplasmy enhances understanding of mitochondrial disorders. Testing alternative tissues can further increase diagnostic yield.
Authors
- Robert Rigobello (ORCID: https://orcid.org/0009-0009-2505-9694)
- Elizabeth Gorman
- Linyan Meng (ORCID: https://orcid.org/0000-0001-7474-9178)
- Fan Xia (ORCID: https://orcid.org/0000-0002-4974-9851)
- Hongzheng Dai (ORCID: https://orcid.org/0000-0002-0103-876X)
- Arpita Neogi (ORCID: https://orcid.org/0000-0002-1862-9347)
- Pengfei Liu (ORCID: https://orcid.org/0000-0002-4177-709X)
- Yue Wang (ORCID: https://orcid.org/0000-0001-6271-6547)
- David Chen (ORCID: https://orcid.org/0000-0001-8690-7196)
- Yanming Feng
- Christine M. Eng (ORCID: https://orcid.org/0009-0008-8627-8228)
- William J. Craigen
Institutions
- Baylor College of Medicine (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.3389/fgene.2025.1488956
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 1.61