Table 2 Diagnostic tests and results
From: The Korean undiagnosed diseases program: lessons from a one-year pilot project
| Â | 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 |