Or. Admin. R. 333-024-0210 - Testing for Metabolic Diseases: Infants Tested for Metabolic Diseases

Current through Register Vol. 61, No. 4, April 1, 2022

Every infant born in Oregon on or after May 1, 2014, shall be tested for at least the following congenital disorders by the state public health laboratory:

(1) Cystic fibrosis (CF).
(2) Endocrine disorders:
(a) Congenital hypothyroidism (CH); and
(b) Congenital adrenal hyperplasia (CAH).
(3) Galactosemia (GALT).
(4) Hemoglobin disorders:
(a) Sickle cell disease (Hb S/S);
(b) Sickle cell/beta thalassemia (Hb S/A); and
(c) Sickle cell/hemoglobin C disease (Hb S/C).
(5) Metabolic disorders:
(a) Amino acid disorders:
(A) Homocystinuria (HCY);
(B) Phenylketonuria (PKU); and
(C) Tyrosinemia (TYR).
(b) Biotinidase deficiency;
(c) Fatty acid oxidation disorders:
(A) Carnitine uptake defect (CUD);
(B) Carnitine/acylcarnitine translocase deficiency (CT);
(C) Carnitine palmitoyl transferase deficiency (CPT), Types I and II;
(D) Glutaric acidemia, Type II (GA-II);
(E) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD);
(F) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD);
(G) Short-chain acyl-CoA dehydrogenase deficiency (SCAD);
(H) Trifunctional protein deficiency (TFP); and
(I) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
(d) Organic acid disorders:
(A) Beta-ketothiolase deficiency (BKT);
(B) Glutaric acidemia, Type I (GA-I);
(C) Isobutryl-CoA dehydrogenase deficiency (IBG);
(D) Isovaleric acidemia (IVA);
(E) Malonic aciduria (MAL);
(F) Maple syrup urine disease (MSUD);
(G) Methylmalonic acidemia (MMA);
(H) Propionic acidemia (PA);
(I) 2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (2M3HBA);
(J) 2-Methylbutyryl CoA dehydrogenase deficiency (2MBG);
(K) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG);
(L) 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC);
(M) 3-methylglutaconyl-CoA hydratase deficiency (3MGA); and
(N) Multiple carboxylase deficiency (MCD).
(e) Urea Cycle Disorders:
(A) Arginase deficiency (ARG);
(B) Argininosuccinate lyase deficiency (ASA); and
(C) Citrullinemia, Type I (CIT I).
(6) Other disorders as defined by Oregon Health Authority.
(7) Severe combined immunodeficiencies (SCID).


Or. Admin. R. 333-024-0210
HD 18-1981(Temp), f. & ef. 9-11-81; HD 3-1982, f. & ef. 2-25-82; HD 17-1983, f. & ef. 10-12-83; HD 10-1986, f. & ef. 6-11-86; HD 28-1994, f. 10-28-1994, cert. ef. 11-1-94; OHD 15-2002, f. & cert. ef. 10-4-02; PH 30-2004(Temp), f. & cert. ef. 9-17-04 thru 3-13-05; PH 37-2004, f. & cert. ef. 12-7-04; PH 11-2014, f. 4-15-14, cert. ef. 5-1-14; PH 92-2018, amend filed 02/12/2018, effective 4/1/2018

Statutory/Other Authority: ORS 433.285

Statutes/Other Implemented: ORS 433.285

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