Table 2 Molecular diagnostic methods used in patients with nDNA pathogenic variants (total 38)
From: Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
Methods | Number of cases (%) |
|---|---|
Targeted mutation analysis | 9 (23.7) |
Gene panel by NGS | 6 (15.8) |
Whole exome sequencing by NGS | 20 (52.6) |
Whole genome sequencing by NGS | 3 (7.9) |