Utah Administrative Code
Topic - Health
Title R438 - Utah Public Health Laboratory
Rule R438-15 - Newborn Screening
Section R438-15-4 - Implementation
Universal Citation: UT Admin Code R 438-15-4
Current through Bulletin 2024-06, March 15, 2024
(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.
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