Table 2 Overall diagnostic rate of the study
From: Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
No. of cases | No. of solved cases | Diagnostic rate, % | |
|---|---|---|---|
Testing method | |||
mtDNA sequencing | 80 | 6 | 7.5 |
mtDNA del/dup analysis | 83 | 1 | 1.2 |
Targeted gene NGS (without further WES analysis) | 9 | 3 | 33.3 |
WES | 21 | 8 | 38.1 |
The age of disease onset | |||
Pediatric (< 16 years) | 58 | 13 | 22.4 |
Adult (> 16 years) | 25 | 5 | 20.0 |
MDC scores | |||
Definite MD (MDC score 8–12) | 12 | 4 | 33.3 |
Probable MD (MDC score 5–7) | 25 | 10 | 40.0 |
Possible MD (MDC score 2–4) | 46 | 4 | 8.7 |
Established disorder | |||
Mitochondrial disease | 83 | 11 | 13.3 |
Other disease (not related to primary mitochondrial dysfunction) | 83 | 6 | 7.2 |
Both mitochondrial and other disease identified | 83 | 1 | 1.2 |
Genome change | |||
mtDNA | 83 | 7 | 8.4 |
nDNA | 83 | 10 | 12.0 |
mtDNA + nDNA | 83 | 1 | 1.2 |
Total | 83 | 18 | 21.7 |