The laboratory conducting analysis of the DBS shall provide such analysis which includes, but is not limited to the following disorders:
- (a) Phenylketonuria (PKU);
- (b) Maple syrup urine disease (MSUD);
- (c) Homocystinuria (HCY);
- (d) Galactosemia (GALT);
- (e) Congenital hypothyroidism;
- (f) Toxoplasmosis;
- (g) Hemoglobinopathies;
- (h) Biotinidase deficiency (BIOT);
- (i) Congenital adrenal hyperplasia (CAH);
- (j) Medium chain acyl CoA dehydrogenase deficiency (MCAD);
- (k) Cystic fibrosis (CF);
- (l) Argininosuccinic aciduria (ASA);
- (m) Argininemia (ARG);
- (n) Carnitine uptake defect (CUD);
- (o) Carnitine palmitoyltransferase II deficiency (CPTII);
- (p) Citrullinemia I, (ASA synthetase def) (CIT);
- (q) Cobalamin A,B (Cbl A,B);
- (r) Glutaric aciduria type I (GAI);
- (s) 3-hydroxy-3-methylglutaryl-CoA Lysase deficiency (HMG);
- (t) Hyperornithinemia hyperammoninemia, homocitrullinemia syndrome (HHH);
- (u) Isovaleric acidemia (IVA);
- (v) Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD);
- (w) 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC);
- (x) Methylmalonic acidemia (MUT);
- (y) Mitochondrial acetoacetyl-CoA thiolase deficiency (BKT);
- (z) Multiple acyl-CoA dehydrogenase deficiency (GA2);
- (aa) Multiple carboxylase deficiency (MCD);
- (ab) Propionic acidemia (PROP);
- (ac) Severe combined immunodeficiency disorder (SCID);
- (ad) Trifunctional protein deficiency (TFP);
- (ae) Tyrosinemia;
- (af) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD);
- (ag) Spinal muscular atrophy (SMA);
- (ah) Mucopolysaccharidosis Type 1 (MPS1);
- (ai) X-Linked Adrenoleukodystrophy (X-ALD); and
- (aj) Pompe Disease (POMPE).
Source. #8529, eff 12-23-05; ss by #8875, eff 4-25-07; ss by #9725, eff 7-1-10; ss by #12632, eff 9-28-18; ss by #13530, eff 1-25-23