– Phenylketonuria (PKU)
– Maple Syrup Urine Disease (MSUD)
– Homocystinuria (HCY)
– Citrullinemia Type 1 (CIT-1)
– Argininosuccinic Acidemia (ASA)
– Tyrosinemia Type 1 (TYR-1)
– Congenital Hypothyroidism (CH)
– Congenital Adrenal Hyperplasia (CAH)
– Carnitine Uptake Defect (CUD)
– Medium-Chain Acyl-CoA Dehydrogenase
Deficiency (MCAD)
– Very Long-Chain Acyl-CoA Dehydrogenase
Deficiency (VLCAD)
– Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase
Deficiency (LCHAD)
– Trifunctional Protein Deficiency (TFP)
– Sickle Cell Anemia (Hb SS)
– S, Beta-Thalassemia (Hb S/β Th)
– S, C Disease (Hb S/C)
– Isovaleric Acidemia (IVA)
– Glutaric Acidemia Type 1 (GA-1)
– 3-Hydroxy-3-Methylglutaric Aciduria (HMG) – Multiple Carboxylase Deficiency (MCD)
– Methylmalonic Acidemia-Cobalamin Defect (Cbl A,B) – Methylmalonic Acidemia-Mutase Deficiency (MUT)
– 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) – Propionic Acidemia (PROP)
– Beta-Ketothiolase Deficiency (BKT) – Biotinidase Deficiency (BIOT)
– Galactosemia (GALT)
– Cystic Fibrosis (CF)
– Severe Combined Immunodeficiency (SCID) – Spinal Muscular Atrophy (SMA)
– X-linked Adrenoleukodystrophy (X-ALD)
– Hearing Differences (HEAR)
– Critical Congenital Heart Defects (CCHD)
– Pompe Disease (by 1/1/2024)
– Mucopolysaccharidosis Type 1 (by 1/1/2024)