Skip to main content

Table 2 Diagnostic tests and results

From: The Korean undiagnosed diseases program: lessons from a one-year pilot project

  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
  1. mtDNA mitochondrial DNA