- Cystic Fibrosis
- Fragile X Syndrome
- Spinal Muscular Atrophy
- Fabry Disease
- Sickle Cell Anemia
- Beta-Thalassemia
- Alpha-Thalassemia
- Beta-Thalassemia
- Tay-Sachs Disease
- Canavan Disease
- Familial Dysautonomia
- Gaucher Disease (Type I)
- Glycogen Storage Disease 1a
- Bloom Syndrome
- Lipoamide Dehydrogenase Deficiency (E3)
- Maple Syrup Urine Disease
- Niemann-Pick Type A
- Mucolipidosis Type IV
- Fanconi Anemia
- Nemaline Myopathy
- Familial Hyperinsulinism
- Usher Syndrome