• Hemophilia or Factor Deficiency (FACTORS I, II, V, VII, VIII,IX,X, XI, XIII)
• Von Willebrand’s Disease
• Congenital Hereditary Platelet Deficiency Diseases or dysfunction such as Congenital Thrombasthenia (Glanzman’s Thrombasthenia) and Thrombocytopathia
• Hemoglobinopathies with Anemia:
  Sickle Cell Disease (Not sickle cell trait)
  Thalassemia

• Cystic Fibrosis (CF) (Non DHCS)

• Huntington’s Disease (HD)
• Joseph’s Disease (Spinocerebellar Ataxia III or SCA III)
• Friedrich’s Ataxia, ataxias due to spinocerebellar degeneration
• Hereditary Spastic Paraplegia
• Roussy-Levy Syndrome
• Olivopontocerebellar Degeneration/Atrophy (OPCA)
• Refsum’s Disease
• Charcot-Marie Tooth Syndrome (CMT Syndrome)

• Phenylketonuria (PKU)
• Tyrosinemia
• Disturbances of Metabolism of Leucine, Isoleucine, Valine
• Hypervalinemia
• Intermittent Branched-Chain Ketonuria
• Leucine Induced/Leucinosis
• Maple Syrup Urine Disease (MSUD)
• Propionic Acidemia and Methylmalonic Acidemia
• Lactic and Pyruvate Metabolism Disorders
• Hereditary Orotic (Pyrimidine Acidemia)
• Homocystinuria
• Hypermethioninemia
• Argininosuccinic Aciduria
• Citrullinemia
• Disorders of Metabolism of Ornithine, Citrulline, Argininossuccinic Acid, Arginine, and Ammonia
• Hyperammonemia
• Hyperornithinemia

  Diseases of Carbohydrates Metabolism

• Galactosemia
• Galactose-1-Phosphate Uridyl Transferase Deficiency
• Galactosuria

• Wilson’s Disease