- 3-Methylcrotonyl-CoA carboxylase deficiency
- Acrodermatitis enteropathica
- Alpha-1 antitrypsin deficiency
- Amyotrophic lateral sclerosis
- Argininosuccinate lyase deficiency
- Autoimmune polyglandular syndrome, type I
- Bartter syndrome, type 4A
- Beta-ketothiolase deficiency
- Beta-thalassemia
- Biotinidase deficiency
- Bloom syndrome
- Canavan disease
- Carnitine deficiency, primary systemic
- Cerebrotendinous xanthomatosis
- Citrullinemia, type I
- Corticosterone methyl oxidase deficiency
- Crigler-Najjar syndrome
- Cystic fibrosis
- Diabetes, permanent neonatal
- Dihydropyrimidine dehydrogenase deficiency
- Dubin-Johnson syndrome
- Ehlers-Danlos syndrome, dermatosparaxis
- Ehlers-Danlos syndrome, hypermobility
- Ehlers-Danlos syndrome, kyphoscoliotic
- Ethylmalonic aciduria
- Factor XI deficiency
- Familial dysautonomia
- Familial Mediterranean fever
- Fanconi anemia
- Galactokinase deficiency
- Galactosemia
- Gaucher disease
- Glutaric acidemia, type 1
- Glycogen storage disease, type 1A
- GM1-gangliosidosis
- Hearing loss, DFNB1 and DFNB9 nonsyndromic
- Hearing loss, DFNB59 nonsyndromic
- Hemochromatosis
- Hemoglobin C
- Hemoglobin E
- HMG-CoA lyase deficiency
- Homocystinuria, cblE type
- Homocystinuria, classic
- Hurler syndrome
- Krabbe disease
- Lipoprotein lipase deficiency, familial
- Maple syrup urine disease
- Medium-chain acyl-CoA dehydrogenase deficiency
- Methylmalonic acidemia
- MTHFR deficiency
- Mucolipidosis II
- Mucolipidosis III
- Mucolipidosis IV
- Multiple carboxylase deficiency
- Nephrotic syndrome, steroid-resistant
- Niemann-Pick disease
- Phenylketonuria
- Polycystic kidney disease
- Pompe disease
- Prekallikrein deficiency
- Propionic acidemia
- Prothrombin deficiency
- Rh-null syndrome
- Rickets, pseudovitamin D-deficiency
- Sandhoff disease
- Short-chain acyl-CoA dehydrogenase deficiency
- Sick sinus syndrome
- Sickle cell disease
- Spherocytosis, hereditary
- Tay-Sachs disease
- Tay-Sachs pseudodeficiency
- Thrombocytopenia, congenital amegakaryocytic
- Tyrosinemia
- Very long-chain acyl-CoA dehydrogenase deficiency
- Von Willebrand disease, type 2 Normandy
- Von Willebrand disease, type 3