Each baby born in Maine is screened for laboratory markers of the conditions listed below. This list is correct as of April 1, 2021, but may change as conditions are added or removed from the testing panel.
- 3-Hydroxy-3-Methyglutaric Aciduria (HMG)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
- Argininosuccinic Aciduria (ASA)
- B-Ketothiolase Deficiency (BKT)
- Biotinidase Deficiency (BIOT)
- Carnitine uptake Defect/Carnitine Transport Defect (CUD)
- Citrullinemia Type I (CIT)
- Classic Galactosemia (GALT)
- Classic Phenylketonuria (PKU) | Phenylketonuria - PKU
- Congenital Adrenal Hyperplasia (CAH)
- Congenital Hypothyroidism (CH)
- Cystic Fibrosis (CF)
- Glutaric Acidemia Type I (GAI)
- Holocarboxylase Synthase Deficiency (MCD)
- Homocystinuria (HCY)
- Isovaleric Acidemia (IVA)
- Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Maple Syrup Urine Disease (MSUD)
- Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- Methylmalonic Acidemia (MUT)
- Methylmalonic Acidemia Cobalamin A, B (Cbl A, B)
- Mucopolysaccharidosis (MPS-1)
- Pompe Disease
- Propionic Acidemia (PROP)
- S,S Disease (Sickle Cell Anemia) (Hb SS)
- S/Beta-Thalassemia (Hb S/BTh)
- Severe Combined Immunodeficiencies (SCID)
- S,C Disease (Hb S/C)
- Spinal Muscular Atrophy (SMA)
- Trifunctional Protein Deficiency (TFP)
- Tyrosinemia Type I (TYR I)
- Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
- X-linked Adrenoleukodystrophy (X-ALD)