Table 2 Diagnostic yield of molecular genetics and genomic investigations of all individuals are summarized in Table 2
| Â | Diagnostic yield of clinical exome sequencing n (%) | Diagnostic yield of next generation sequencing panels n (%) | Diagnostic yield of mitochondrial genome sequencing n (%) | Diagnostic yield of mitochondrial common variant testing n (%) |
|---|---|---|---|---|
Total | 33 (37.1%) | 9 (18.4%) | 32 (15.8%) | 8 (11.8%) |
Muscle mtDNA 17 (17.9%) | ||||
Urine mtDNA 14 (16.1%) | ||||
Blood mtDNA 4 (14.3%) | ||||
BuccalmtDNA 2 (50%) | ||||
Adult | 13 (25.5%) | 3 (10.3%) | 28 (20.7%) | 6 (12.7%) |
Muscle mtDNA 15 (23.8%) | ||||
Urine mtDNA = 13 (22.4%) | ||||
Blood mtDNA 1 (5.9%) | ||||
Buccal mtDNA 1 (50%) | ||||
Children | 20 (52.6%) | 6 (30%) | 4 (6%) | 2 (9.5%) |
Muscle mtDNA 2 (6.3%) | ||||
Urine mtDNA 1 (3.4%) | ||||
Blood mtDNA 1 (9%) | ||||
Buccal mtDNA 1 (50%) |