Table 8 Type of genetic testing used to determine diagnosis (N = 116)
From: Leigh syndrome global patient registry: uniting patients and researchers worldwide
Testing type | n (%) |
|---|---|
Whole Exome sequencing | 28 (24.14) |
Mitochondrial DNA sequencing | 26 (22.41) |
Whole genome sequencing | 22 (18.97) |
Don't know | 11 (9.48) |
Other | 11 (9.48) |
Gene panel | 8 (6.90) |
Targeted gene analysis | 8 (6.90) |
Not reported | 2 (1.72) |