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Diagnostic tests and results
| Total number of test performed (n) | Analysis complete (n) | Diagnosis confirmed (n) | Diagnostic yield (%) | |
|---|---|---|---|---|
| Traditional test | ||||
| Chromosomal microarray | 14 | 12 | 2 | 16.7 |
| Enzyme assay | 2 | 2 | 2 | 100.0 |
| Single gene test | 10 | 9 | 4 | 44.0 |
| mtDNA sequencing | 1 | 1 | 1 | 100.0 |
| Target Gene panel sequencing |
7 | 7 | 4 | 57.1 |
| Exome, proband | 54 | 32 | 8 | 25.0 |
| Exome, trio | 40 | 20 | 7 | 35.0 |
mtDNA mitochondrial DNA
