Newborn Screening Disorders
Amino Acid Metabolism Disorders
- Argininosuccinic Aciduria (ASA)
- Citrullinemia (CIT)
- Homocystinuria (HCY)
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease (MSUD)
- Tyrosinemia (TYR)
Biotinidase Deficiency
Congenital Adrenal Hyperplasia (CAH)
Congenital Hypothyroidism (CH)
Cystic Fibrosis (CF)
Fatty Acid Oxidation Disorders
- Carnitine Uptake Deficiency (CUD)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- Long-chain L-3-OH acyl-CoA Dehydrogenase Deficiency (LCHAD)
- Very Long-Chain acyl-CoA Dehydrogenase Deficiency (VLCAD)
- Trifunctional Protein Deficiency (TFP)
Classical Galactosemia (GALT)
Hemoglobinopathies
- Sickle Cell Anemia (Hb SS)
- Hb S/ß-thalassemia (Hb S/ß Th)
- Hb S/C disease (Hb S/C)
Organic Acidemia Disorders
- ß-Ketothiolase deficiency (BKT)
- Glutaric Acidemia type I (GA I)
- 3-OH 3-CH3 Glutaric Aciduria (HMG)
- Isovaleric Acidemia (IVA)
- Methylmalonic Acidemia -Cbl A, B (Cbl A, B)
- Methylmalonic Acidemia mutase deficiency (MUT)
- 3-Methylcrotonyl-CoA carboxylase Deficiency (3MCC)
- Multiple carboxylase Deficiency (MCD)
- Propionic Acidemia (PA)
Severe Combined Immunodeficiency (SCID)