| IEM_001 | Congenital disorders of glycosylation | 55 genes |
| IEM_002 | Disorders in the metabolism of trace elements and metals (eg: Menkes disease, Wilson disease, Hypomagnesemia, Hemochromatosis, Gitelman syndrome) | 20 genes |
| IEM_003 | Disorders of amino acid and peptide metabolism (eg: Maple syrup urine disease, urea cycle disorders, organic acidurias, phenylketonuria, homocystinuria) | 104 genes |
| IEM_004 | Disorders of carbohydrate metabolism (eg: Glycogen Storage Disorders, Galactosemia, Hereditary Fructose intolerance, Pyruvate carboxylase deficiency) | 70 genes |
| IEM_005 | Disorders of lipid and lipoprotein metabolism (eg: Inherited hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemias, Alagille syndrome, Adrenal hyperplasia) | 53 genes |
| IEM_006 | Disorders of neurotransmitters metabolism (eg: GABA-transaminase deficiency, Segawa syndrome) | 24 genes |
| IEM_007 | Disorders of porphyrin and heme metabolism (Sickle cell anemia, beta-Thalassemia, Diamond-Blackfan anemia, Porphyrias, Spherocytosis) | 42 genes |
| IEM_008 | Disorders of vitamins and cofactor metabolism (Megaloblastic anemia, Molybdenum cofactor deficiency) | 39 genes |
| IEM_009 | Fatty acid and peroxisomal disorders (eg: Fatty acid oxidation disorders, Zellweger Syndrome Spectrum, Carnitine deficiency) | 46 genes |
| IEM_010 | Disorders of the metabolism of sterols (eg: Smith-Lemli-Opitz syndrome, Progressive familial intrahepatic cholestasis) | 25 genes |
| IEM_011 | Disorders of purines, pyrimidines and nucleotide metabolism (eg: Adenylosuccinase deficiency, Dihydropyrimidine dehydrogenase deficiency) | 32 genes |
| IEM_012 | Lysosomal storage disorders (eg: Mucopolysaccharidosis, Gangliosidosis, Niemann-Pick disease, Gaucher disease) | 63 genes |
