OAR 333-024-1070: Newborn Screening: The Newborn Bloodspot Screening Panel of Tests

(1) Every properly collected specimen submitted for newborn screening will be tested by the Oregon State Public Health Laboratory or, at the discretion of the Oregon State Public Health Laboratory, another CLIA certified laboratory. (2) Newborn screening specimens will be tested for the medical conditions listed in this rule. At its discretion, and consistent with CLIA standards, the Oregon State Public Health Laboratory will use appropriate screening methods and high-tier testing to detect the following disorders. (3) Metabolic Disorders: (a) Organic Acid Disorders. (A) Propionic acidemia (PA); (B) Methylmalonic acidemia (MMA); (C) Isovaleric acidemia (IVA); (D) 3-methylcrotonyl CoA carboxylase deficiency (3MCC); (E) 3-Hydroxy-3-Methyglutaric Aciduria (HMG); (F) Holocarboxylase Synthase Deficiency; (G) Beta-ketothiolase deficiency (BKT); (H) Glutaric acidemia, Type I (GA-I); (I) Malonic acidemia (MAL); (J) Isobutyrylglycinuria; (K) 2-Methylbutyrylglycinuria; (L) 3-Methylglutaconic aciduria; and (M) 2-methyl-3-hydroxybutyric aciduria. (b) Fatty acid oxidation disorders. (A) Carnitine uptake defect (CUD); (B) Medium chain acyl-CoA dehydrogenase deficiency (MCAD); (C) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD); (D) Long chain 3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD); (E) Trifunctional protein deficiency (TFP); (F) Short chain acyl-CoA dehydrogenase deficiency (SCAD); (G) Glutaric acidemia Type II (GA2); (H) Carnitine palmitoyl transferase deficiency, Types I and II (CPT I and CPT II); and (I) Carnitine acylcarnitine translocase deficiency; and (J) X-linked adrenoleukodystrophy (XALD). (c) Amino acid disorders. (A) Argininosuccinate lyase deficiency ; (B) Citrullinemia, Type I (CIT); (C) Maple syrup urine disease (MSUD); (D) Homocystinuria (HCY); (E) Phenylketonuria (PKU); (F) Tyrosinemia, Types I, II, and III; and (G) Arginemia (ARG). (4) Endocrine disorders: (a) Primary congenital hypothyroidism (CH). (b) Congenital adrenal hyperplasia (CAH). (5) Cystic fibrosis. (6) Biotinidase deficiency. (7) Classic Galactosemia. (8) Sickle cell anemia and other hemoglobin disorders. (9) Severe combined immunodeficiency disease (SCID). (10) Lysosomal diseases. (a) Pompe (glycogen storage disease Type II); (b) Mucopolysaccharidosis Type I (MPS I); (c) Fabry (alphagalactosidase A deficiency); (d) Gaucher (glucocerebrosidase deficiency); (11) Spinal Muscular Atrophy (SMA); and (12) Infantile Krabbe Disease (IKD). (13) Newborn screening results may identify other medical conditions that are not listed above. Other medical conditions that are identified during routine newborn screening will be included in a result report as described in OAR 333-024-1080. It is within the discretion of an infant’s health care provider and parents or legal guardians to determine what, if any, medical follow-up is needed in these circumstances.