(A) Mandated Newborn Blood Screening. The following diseases and disorders shall be included in mandated newborn screening:

1. (1) Inborn Errors of Metabolism.

   1. (a) Amino Acid Disorders:

      1. 1. Homocystinuria (HCY);
      2. 2. Maple Syrup Urine Disease (MSUD);
      3. 3. Phenylketonuria (PKU);
      4. 4. Tyrosinemia, Type I (TYR I).

   2. (b) Fatty Acid Oxidation Disorders:

      1. 1. Carnitine-Acylcarnitine Translocase Deficiency (CACT);
      2. 2. Carnitine Uptake Defect (CUD);
      3. 3. Long-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD);
      4. 4. Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD);
      5. 5. Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD).

   3. (c) Organic Acidemias:

      1. 1. Beta-Ketothiolase Deficiency (BKT);
      2. 2. Glutaric Acidemia type I (GAI);
      3. 3. 3-Hydroxy-3-Methylglutaric Aciduria (HMG);
      4. 4. Isovaleric Acidemia (IVA);
      5. 5. Methylmalonic Acidemia: methylmalonyl CoA mutase deficiency (MUT);
      6. 6. Methylmalonic Acidemia: cobalamin A, B (Cbl A,B);
      7. 7. Methylmalonic Acidemia: cobalamin C, D (Cbl C,D);
      8. 8. Propionic Acidemia (PA).

   4. (d) Urea Cycle Disorders:

      1. 1. Argininemia (ARG) aka Arginase Deficiency;
      2. 2. Argininosuccinic Aciduria (ASA) aka Argininosuccinate Lyase Deficiency;
      3. 3. Carbamylphosphate Synthetase Deficiency (CPS);
      4. 4. Citrullinemia, Type I aka Argininosuccinate Synthetase Deficiency (CIT-I);
      5. 5. Ornithine Transcarbamylase Deficiency (OTC).

   5. (e) Storage Disorders and Leukodystrophies:

      1. 1. Glycogen Storage Disorder-II (GSD-II aka Pompe);
      2. 2. Krabbe disease (globoid cell leukodystrophy) (KD) (for specimens received on or after January 1, 2027);
      3. 3. Mucopolysaccharidosis type 1 (MPS-I);
      4. 4. X-linked adrenoleukodystrophy (X-ALD);
      5. 5. Metachromatic leukodystrophy (MLD) (for specimens received on or after July 1, 2027);

   6. (f) Other Disorders of Metabolism:

      1. 1. Biotinadase Deficiency (BTD);
      2. 2. Galactosemia Classical (GALT);
      3. 3. Guanidinoacetate methyltransferase (GAMT) (for specimens received on or after January 1, 2027).

2. (2) Other Genetic Disorders:

   1. (a) Hemoglobin Sickling Disorders including but not limited to:

      1. 1. Sickle cell anemia (Hb SS);
      2. 2. Hb S/C disease (Hb SC);
      3. 3. Hb S/Beta -thalassemia (Hb S/BetaThalassemia).
   2. (b) Cystic Fibrosis (CF);
   3. (c) Severe Combined Immunodeficiency (SCID).

   4. (d) Neuromuscular Disorders:

      1. 1. Duchenne Muscular Dystrophy (DMD)
      2. 2. Spinal Muscular Atrophy (SMA)

3. (3) Other Congenital Disorders:

   1. (a) Endocrinopathies:

      1. 1. Congenital Adrenal Hyperplasia (CAH);
      2. 2. Congenital hypothyroidism (CH)
   2. (b) Infectious Diseases: 1.Congenital Toxoplasmosis (TOXO)