Table 4 diagnostic yield of clinical exome sequencing according to the suspected diagnosis
Metabolic disorders—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 108/173 | 62.4 | (55.1–69.7) |
At least one variant classified as LP or P | 61/173 | 35.3 | (28.1–42.5) |
Dyslipidemia—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 51/76 | 67.1 | (56.3–77.9) |
At least one variant classified as LP or P | 37/76 | 48.7 | (37.2–60.2) |
Liver and biliary tract disorders—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 30/65 | 46.2 | (33.7–59.0) |
At least one variant classified as LP or P | 20/65 | 30.8 | (19.9–43.5) |
Neurological disorders—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 22/27 | 81.5 | (65.8–97.1) |
At least one variant classified as LP or P | 15/27 | 55.6 | (35.5–75.6) |
Inflammatory and autoinflammatory diseases—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 8/18 | 44.4 | (19.0–69.9) |
At least one variant classified as LP or P | 4/18 | 22.2 | (0.9–43.5) |
Developmental abnormalities—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 7/13 | 53.8 | (22.5–85.2) |
At least one variant classified as LP or P | 6/13 | 46.2 | (14.8–77.5) |
Mitochondrial cytopathy—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 6/8 | 75 | (36.3–100*) |
At least one variant classified as LP or P | 3/8 | 37.5 | (0–80.8) |
Pancreatitis—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 4/8 | 50 | (5.3–94.7) |
At least one variant classified as LP or P | 2/8 | 25 | (0–63.7) |
Myopathy—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 4/7 | 57.1 | (7.7–100*) |
At least one variant classified as LP or P | 1/7 | 14.3 | (0–49.2) |
Osteogenesis imperfecta—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 6/7 | 85.7 | (50.8–100*) |
At least one variant classified as LP or P | 3/7 | 42.9 | (0–92.3) |
Intestinal absorption disorders—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 4/7 | 57.1 | (7.7–100) |
At least one variant classified as LP or P | 3/7 | 42.9 | (†0–92.3) |
Lipodystrophy—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 3/5 | 60 | (0–100*) |
At least one variant classified as LP or P | 2/5 | 40 | (0–100*) |
Primary immunodeficiencies—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 2/4 | 50 | (0–100) |
At least one variant classified as LP or P | 1/4 | 25 | (0–100) |
Miscellaneous conditions—n/N, % (95% CI) | |||
At least one variant classified as VUS, LP, or P | 4/8 | 50 | (5.3–94.7) |
At least one variant classified as LP or P | 2/8 | 25 | (0–63.7) |