Utah Admin. Code R438-15-4 - Implementation

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

(2) The Department, after consulting with the Newborn Screening Advisory Committee, will determine the disorders on the Newborn Screening Panel, based on demonstrated effectiveness and available funding. Disorders for which the laboratory screens the infant blood are:

(a) biotinidase deficiency;

(b) congenital adrenal hyperplasia;

(c) congenital hypothyroidism;

(d) galactosemia;

(e) hemoglobinopathy;

(f) amino acid metabolism disorders:

(i) phenylketonuria;

(ii) tyrosinemia type 1;

(iii) tyrosinemia type 2;

(iv) tyrosinemia type 3;

(v) maple syrup urine disease;

(vi) homocystinuria;

(vii) citrullinemia;

(viii) argininosuccinic aciduria;

(ix) argininemia;

(x) hyperprolinemia type 2;

(g) fatty acid oxidation disorders:

(i) medium chain acyl coA dehydrogenase deficiency;

(ii) very long chain acyl coA dehydrogenase deficiency;

(iii) short chain acyl coA dehydrogenase deficiency;

(iv) long chain 3-OH acyl coA dehydrogenase deficiency;

(v) short chain 3-OH acyl coA dehydrogenase deficiency;

(vi) primary carnitine deficiency;

(vii) carnitine palmitoyl transferase 1 deficiency;

(viii) carnitine palmitoyl transferase 2 deficiency;

(ix) carnitine acylcarnitine translocase deficiency;

(x) multiple acyl coA dehydrogenase deficiency;

(h) organic acids disorders:

(i) propionic acidemia;

(ii) methylmalonic academia;

(iii) malonic aciduria;

(iv) isovaleric acidemia;

(v) 2-methylbutyryl coA dehydrogenase deficiency;

(vi) isobutyryl coA dehydrogenase deficiency;

(vii)2-methyl-3 -OH-butyryl-coA dehydrogenase deficiency;

(viii) glutaric acidemia type 1;

(ix) 3-methylcrotonyl coA carboxylase deficiency;

(x) 3-ketothiolase deficiency;

(xi)3-hydroxy-3 -methyl glutaryl coA lyase deficiency;

(xii) holocarboxylase synthase deficiency;

(i) cystic fibrosis;

(j) severe combined immunodeficiency syndrome;

(k) disorders of creatine metabolism;

(l) spinal muscular atrophy;

(m) x-linked adrenoleukodystrophy;

(n) pompe disease; and

(o) mucopolysaccharidosis type I.

Notes

Utah Admin. Code R438-15-4

Adopted by Utah State Bulletin Number 2018-3, effective 1/29/2018 Amended by Utah State Bulletin Number 2019-1, effective 1/1/2019 Amended by Utah State Bulletin Number 2020-19, effective 9/15/2020 Amended by Utah State Bulletin Number 2023-13, effective 7/10/2023 Amended by Utah State Bulletin Number 2023-14, effective 7/10/2023