Table 2 Description of suspected diagnoses associated with clinical exome sequencing prescriptions
Suspected diagnoses | |||
|---|---|---|---|
Metabolic disorders—n/N, % (95% CI) | 173/426 | 40.6 | (35.9–45.3) |
One-carbon metabolism disorders | 104/426 | 24.4 | (20.3–28.5) |
Energy metabolism disorders | 9/426 | 2.1 | (0.7–3.5) |
Organic acidurias | 6/426 | 1.4 | (0.3–2.5) |
Congenital hyperinsulinisms | 6/426 | 1.4 | (0.3–2.5) |
Lysosomal storage disorders* | 6/426 | 1.4 | (0.3–2.5) |
Glycogen storage diseases | 5/426 | 1.2 | (0.1–2.2) |
Hyperbilirubinemias | 5/426 | 1.2 | (0.1–2.2) |
Peroxisomal disorders | 5/426 | 1.2 | (0.1–2.2) |
Biopterin metabolism disorders | 5/426 | 1.2 | (0.1–2.2) |
Calcium and phosphorus metabolic disorders | 5/426 | 1.2 | (0.1–2.2) |
Alkaptonuria | 3/426 | 0.7 | (0†–1.5) |
Metabolic disorders, miscellaneous | 14/426 | 3.3 | (1.6–5.0) |
Dyslipidemia | 76/426 | 17.8 | (14.2–21.5) |
Hypercholesterolemia | 46/426 | 10.8 | (7.8–13.8) |
Hypertriglyceridemia | 20/426 | 4.7 | (2.7–6.7) |
Hypolipoproteinemia | 5/426 | 1.2 | (0.1–2.2) |
Mixed dyslipidemia | 2/426 | 0.5 | (0†–1.1) |
Dyslipidemia, Other | 3/426 | 0.7 | (0†–1.5) |
Liver and biliary tract disorders | 65/426 | 15.3 | (12.0–19.1) |
Hyperferritinemia | 19/426 | 4.5 | (2.5–6.4) |
Low phospholipid-associated cholelithiasis | 12/426 | 2.8 | (1.2–4.4) |
Cholestatic disorders | 12/426 | 2.8 | (1.2–4.4) |
Wilson’s disease | 9/426 | 2.1 | (0.7–3.5) |
Cryptogenic cirrhosis | 4/426 | 0.9 | (0–1.9) |
Chronic liver cytolysis | 4/426 | 0.9 | (0–1.9) |
Alpha-1-antitrypsin deficiency | 2/426 | 0.5 | (0†–1.1) |
Polycystic liver disease | 2/426 | 0.5 | (0†–1.1) |
Liver steatosis | 1/426 | 0.2 | (0†–0.7) |
Neurological disorder | 27/426 | 6.3 | (4.0–8.7) |
Ataxia, hypotonia, paraparesis | 13/426 | 3.1 | (1.4–4.7) |
Mental retardation with or without autism | 5/426 | 1.2 | (0.1–2.2) |
Epilepsy | 3/426 | 0.7 | (0†–1.5) |
Neurological disorders, other | 6/426 | 1.4 | (0.3–2.5) |
Inflammatory and autoinflammatory disease | 18/426 | 4.2 | (2.3–6.1) |
Autoinflammatory diseases | 17/426 | 4.0 | (2.1–5.9) |
Inflammatory diseases, other | 1/426 | 0.2 | (0†–0.7) |
Developmental abnormality | 13/426 | 3.1 | (1.4–4.7) |
Heart defects | 4/426 | 0.9 | (0–1.9) |
Neural tube defects | 3/426 | 0.7 | (0†–1.5) |
Developmental abnormality, other | 6/426 | 1.4 | (0.3–2.5) |
Mitochondrial cytopathy | 8/426 | 1.9 | (0.6–3.2) |
Pancreatitis | 8/426 | 1.9 | (0.6–3.2) |
Intestinal absorption disorders | 7/426 | 1.6 | (0.4–2.9) |
Myopathy | 7/426 | 1.6 | (0.4–2.9) |
Osteogenesis imperfecta | 7/426 | 1.6 | (0.4–2.9) |
Lipodystrophy | 5/426 | 1.2 | (0.1–2.2) |
Primary immunodeficiencies | 4/426 | 0.9 | (0–2.2) |
Other | 8/426 | 1.9 | (0.6–3.2) |
Thrombophilia | 2/426 | 0.5 | (0†–1.1) |
Amyloidosis | 1/426 | 0.2 | (0†–0.7) |
Cancer | 2/426 | 0.5 | (0†–1.1) |
Marfan syndrome | 1/426 | 0.2 | (0†–0.7) |
Sudden death | 1/426 | 0.2 | (0†–0.7) |
Telomere Diseases | 1/426 | 0.2 | (0†–0.7) |