Or. Admin. Code § 333-024-1070

Current through Register Vol. 63, No. 12, December 1, 2024

Section 333-024-1070 - Newborn Screening: The Newborn Screening Panel and Methods of Testing

(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 subsections (3) through (11), using the methods listed below. At its discretion, and consistent with CLIA standards, the Oregon State Public Health Laboratory may use an equivalent or better alternative method.

(3) Metabolic Disorders:

(a) Organic Acid Disorders. Method: Quantitative measurement of amino acids by tandem mass spectrometry.

(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. Method: Quantitative measurement of acylcarnitines by tandem mass spectrometry.

(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.

(c) Amino acid disorders. Method: Quantitative measurement of amino acids by tandem mass spectrometry.

(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). Method: Fluorescent immunoassay of thyroxine (T4) with secondary assay of thyroid stimulating hormone (thyrotropin or TSH).

(b) Congenital adrenal hyperplasia (CAH). Method: Fluorescent immunoassay of 17-alpha hydroxyprogesterone (17-OHP).

(5) Cystic fibrosis. Method: Primary screening by fluorescent immunoassay for quantification of immunoreactive trypsinogen with second tier PCR amplification followed by allele-specific probe hybridization for common cystic fibrosis mutations.

(6) Biotinidase deficiency. Method: Colorimetric or fluorometric assay for biotinidase activity.

(7) Classic Galactosemia. Method: Fluorescent immunoassay for the presence or absence of detectable galactose uridyl transferase in erythrocytes and galactose levels.

(8) Sickle cell anemia and other hemoglobin disorders. Method: Primary screening for sickling hemoglobin by isoelectric focusing and confirmation by high performance liquid chromatography to detect hemoglobin variants.

(9) Severe combined immunodeficiency disease (SCID). Method: PCR to detect the absence or presence of T-cell receptor excision circles.

(10) Lysosomal storage diseases. Method: Quantitative measurement of enzyme levels by tandem mass spectrometry with second tier for specific analytes using tandem mass spectrometry or DNA sequencing.

(a) Pompe (glycogen storage disease Type II);

(b) Mucopolysaccharidosis Type I (MPS I);

(c) Fabry (alphagalactosidase A deficiency); and,

(d) Gaucher (glucocerebrosidase deficiency).

(11) Spinal Muscular Atrophy (SMA). Method: PCR to detect presence or absence of the SMN1 gene.

(12) Beginning on or before January 1, 2023, Newborn Screening specimens will also be tested for X-linked Adrenoleukodystrophy (X-ALD). Method: tandem mass spectrometry.

(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.

Or. Admin. Code § 333-024-1070

PH 283-2018, adopt filed 12/20/2018, effective 01/01/2019; PH 24-2019, amend filed 11/18/2019, effective 11/25/2019; PH 83-2022, amend filed 05/25/2022, effective 6/1/2022; PH 77-2024, amend filed 10/29/2024, effective 11/20/2024

Statutory/Other Authority: ORS 413.014, 433.285 & 431A.750

Statutes/Other Implemented: ORS 433.285, 433.290 & 433.295