Amino Acid Disorders:
- Argininemia (ARG)*
- Argininosuccinic acidemia (ASA)
- Citrullinemia Type I (CIT-I)
- Citrullinemia Type II (CIT-II)
- Homocystinuria (HCY)
- Hypermethioninemia (MET)*
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Benign hyperphenylalaninemia defect (H-PHE)
- Biopterin cofactor biosynthesis defect (BIOPT-BS)
- Biopterin cofactor regeneration defect (BIOPT-REG)
- Tyrosinemia (TYR-I)*
- Tyrosinemia Type II(TYR-II)*
- Tyrosinemia Type III(TYR-III)*
Fatty Acid Oxidation Disorders:
- Carnitine acylcarnitine translocase deficiency (CACT)*
- Carnitine palmitoyltransferase I deficiency (CPT-IA)*
- Carnitine palmitoyltransferase II deficiency (CPT-II)*
- Carnitine uptake deficiency (CUD)*
- Dienoyl-CoA reductase deficiency (DERED)*
- Glutaric acidemia type II (GA-2)*
- Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (LCHAD)*
- Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)*
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)*
- Trifunctional protein deficiency (TFP)*
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)*
Organic Acid Disorders:
- 2-Methyl-3-hydroxy butyric aciduria (2M3HBA)*
- 2-Methylbutyryrl-CoA dehydrogenase deficiency (2MBG)*
- 3-hydroxy 3-methylglutaric aciduria (HMG)*
- 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)*
- 3-Methylglutaconic aciduria (3MGA)*
- Beta-ketothiolase deficiency (BKT)*
- Glutaric acidemia type I (GA1)*
- Isovaleric acidemia (IVA)*
- Malonic acidemia (MAL)
- Methylmalonic acidemia cobalamin disorders (Cbl A,B)*
- Methylmalonic aciduria with homocystinuria (Cbl C,D)*
- Methylmalonic acidemia methylmalonyl-CoA mutase (MUT)*
- Multiple carboxylase deficiency (MCD)*
- Propionic acidemia (PROP)*
Hemoglobinopathies:
Interpretation of Newborn Hemoglobin Screening results - S/Beta thalassemia
- S/C disease
- Sickle cell anemia
- Variant hemoglobinopathies
- Hemoglobin H disease
- Congenital adrenal hyperplasia (CAH)
- Congenital hypothyroidism (CH)
Lysosomal Storage Disorders:
- Glycogen Storage Disease Type II (Pompe)
- Mucopolysaccharidosis Type I (MPS I)
Other Disorders:
- Biotinidase deficiency (BIOT)
- Galactosemia (GALT)
- Cystic Fibrosis (CF)**
- Severe combined immunodeficiency (SCID)
- T-cell related lymphocyte deficiencies
- X-linked Adrenoleukodystrophy (X-ALD)
- Spinal muscular atrophy (SMA)
- Guanidinoacetate methyltransferase (GAMT) deficiency
Point of Care Tests:
- Early Hearing Detection and Intervention (EHDI) Program
- Critical Congenital Heart Disease (CCHD)
Disorders Coming Soon:
These conditions have been approved for addition to Michigan's panel, but implementation is in progress and screening has not yet begun.
- Mucopolysaccharidosis Type II (MPS II)
- Infantile and Late-Infantile Krabbe Disease (IKD/LIKD)