1. (1) The health care provider shall submit a sample for each newborn in the state for newborn screening testing, except as provided in Section R438-15-12.

2. (2) The department, after consulting with the Newborn Screening Advisory Committee, shall determine the disorders on the Newborn Screening Panel, based on demonstrated effectiveness and available funding. The laboratory shall screen infant blood for the following disorders:

   1. (a) amino acid metabolism disorders:

      1. (i) argininemia;
      2. (ii) argininosuccinic aciduria;
      3. (iii) citrullinemia;
      4. (iv) homocystinuria;
      5. (v) hyperprolinemia type II;
      6. (vi) maple syrup urine disease;
      7. (vii) phenylketonuria;
      8. (viii) tyrosinemia type I;
      9. (ix) tyrosinemia type II; and
      10. (x) tyrosinemia type III;
   2. (b) biotinidase deficiency;
   3. (c) congenital adrenal hyperplasia;
   4. (d) congenital hypothyroidism;
   5. (e) cystic fibrosis;
   6. (f) guanidinoacetate methyltransferase deficiency;

   7. (g) fatty acid oxidation disorders:

      1. (i) carnitine acylcarnitine translocase deficiency;
      2. (ii) carnitine palmitoyl transferase I deficiency;
      3. (iii) carnitine palmitoyl transferase II deficiency;
      4. (iv) long chain 3-OH acyl CoA dehydrogenase deficiency;
      5. (v) medium chain acyl CoA dehydrogenase deficiency;
      6. (vi) multiple acyl CoA dehydrogenase deficiency;
      7. (vii) short chain 3-OH acyl CoA dehydrogenase deficiency;
      8. (viii) short chain acyl CoA dehydrogenase deficiency;
      9. (ix) primary carnitine deficiency;
      10. (x) very long chain acyl CoA dehydrogenase deficiency;

   8. (h) galactosemia;

      1. (i) hemoglobinopathy;
   9. (j) mucopolysaccharidosis type I;

   10. (k) mucopolysaccharidosis type II;

       1. (l) organic acids disorders:
       2. (i) 2-methyl-3-OH-butyryl-CoA dehydrogenase deficiency;
       3. (ii) 2-methylbutyryl CoA dehydrogenase deficiency;
       4. (iii) 3-methylcrotonyl CoA carboxylase deficiency;
       5. (iv) 3-hydroxy-3-methyl glutaryl CoA lyase deficiency;
       6. (v) 3-ketothiolase deficiency;
       7. (vi) glutaric acidemia type I;
       8. (vii) holocarboxylase synthase deficiency;
       9. (viii) isobutyryl CoA dehydrogenase deficiency;
       10. (ix) isovaleric acidemia;
       11. (x) malonic aciduria;
       12. (xi) methylmalonic acidemia; and
       13. (xii) propionic acidemia;
   11. (m) pompe disease;
   12. (n) severe combined immunodeficiency syndrome;
   13. (o) spinal muscular atrophy; and
   14. (p) x-linked adrenoleukodystrophy.

KEY: health care, newborn screening

Date of Last Change: February 17, 2026

Notice of Continuation: January 26, 2023

Authorizing, and Implemented or Interpreted Law: 26B-1-202; 26B-1-432