OAR 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 below, 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-methylglutaryl CoA lyase deficiency (HMG);
(F) Multiple carboxylase deficiency (MCD);
(G) Beta-ketothiolase deficiency (BKT);
(H) Glutaric acidemia, Type I (GA-I);
(I) Malonic acidemia (MAL);
(J) Isobutyryl-CoA dehydrogenase deficiency (IBD);
(K) 2-methylbutyryl CoA dehydrogenase deficiency (2MBC);
(L) 3-methylglutaconyl CoA hydratase deficiency (3MGH); and
(M) 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (2M3HBA).
(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 (e.g. Arginosuccinic aciduria or ASA);
(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) Arginase deficiency (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 the presence or absence of immunoreactive trypsinogen with second tier PCR testing for common cystic fibrosis genotypes.

(6)

Biotinidase deficiency. Method: Colorimetric or fluorometric assay for biotinidase activity or fluorescent immunoassay.
(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. 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: Measurement of the activity of lysosomal storage enzymes by quantitative fluorometric enzymatic activity assay or tandem mass spectrometry with second tier testing by tandem mass spectrometry, PCR, enzymatic assay 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) Newborn screening results may identify medical conditions, commonly referred to as “secondary conditions”, that are not listed above. Any secondary condition that is identified during screening will be included in a result report as described in OAR 333-024-1080 (Newborn Screening: Result Reporting and Follow-up). 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 for a secondary condition that is identified.

Source: Rule 333-024-1070 — Newborn Screening: The Newborn Screening Panel and Methods of Testing, https://secure.­sos.­state.­or.­us/oard/view.­action?ruleNumber=333-024-1070.

333‑024‑0005
Purpose 333‑024‑0010
Definitions 333‑024‑0012
Licensure 333‑024‑0016
Licensure Categories 333‑024‑0020
Licensure for Performance of Laboratory Specialties 333‑024‑0021
Qualifications and Responsibilities of Directors for High Complexity Laboratories 333‑024‑0022
Qualifications and Responsibilities for Director of Moderate Complexity Laboratories 333‑024‑0023
Qualifications and Responsibilities of Consultants, Supervisors and Testing Personnel for Moderate and High Complexity Laboratories 333‑024‑0026
Equipment and Facilities 333‑024‑0035
Internal Quality Control for Moderate and High Complexity Laboratories 333‑024‑0037
Specialty and Subspecialty Quality Control 333‑024‑0040
External Quality Control (Proficiency Testing Programs and On-Site Inspections) 333‑024‑0043
Quality Assurance 333‑024‑0045
Venereal Disease Testing 333‑024‑0050
Records and Reports 333‑024‑0053
Accreditation Organizations and Accredited Laboratories 333‑024‑0055
Incompetence 333‑024‑0260
Alpha-Fetoprotein Testing and Other Serum and Amniotic Fluid Based Markers for Congenital/Genetic Defects: Purpose 333‑024‑0265
Alpha-Fetoprotein Testing and Other Serum and Amniotic Fluid Based Markers for Congenital/Genetic Defects: Procedure 333‑024‑0305
Testing for Substances of Abuse: Purpose and Scope 333‑024‑0310
Testing for Substances of Abuse: Definitions 333‑024‑0315
Testing for Substances of Abuse: Licensure 333‑024‑0320
Testing for Substances of Abuse: Qualifications and Responsibilities of Directors 333‑024‑0325
Testing for Substances of Abuse: Incompetence 333‑024‑0330
Testing for Substances of Abuse: Specimen Collection, Chain of Custody, Records, and Reports 333‑024‑0335
Testing for Substances of Abuse: Internal Quality Assurance 333‑024‑0340
Testing for Substances of Abuse: External Quality Control (Proficiency Testing Program and On-Site Inspections) 333‑024‑0345
Testing for Substances of Abuse: Confirmatory Testing 333‑024‑0350
Testing for Substances of Abuse: Equipment and Facilities 333‑024‑0360
Testing for Substances of Abuse: Special Category Laboratories 333‑024‑0365
Testing for Substances of Abuse: Substance of Abuse Registration 333‑024‑0370
Health Screen Testing: Purpose 333‑024‑0375
Health Screen Testing: Definitions 333‑024‑0380
Health Screen Testing: Permits 333‑024‑0385
Health Screen Testing: Testing Site Schedule 333‑024‑0390
Health Screen Testing: Personnel Qualifications and Responsibilities 333‑024‑0395
Health Screen Testing: Tests Performed 333‑024‑0400
Health Screen Testing: Quality Assurance 333‑024‑1000
Newborn Screening: Purpose 333‑024‑1010
Newborn Screening: Definitions 333‑024‑1020
Newborn Screening: Persons Responsible for Ensuring that First Specimens are Collected and Submitted 333‑024‑1025
Newborn Screening: Persons Responsible for Ensuring that Second, Third and Repeat Specimens are Collected and Submitted 333‑024‑1030
Newborn Screening: Timing for Collecting Specimens 333‑024‑1040
Newborn Screening: Manner of Submitting Specimens 333‑024‑1050
Newborn Screening: Religious Exemption from Newborn Testing 333‑024‑1060
Newborn Screening: Improperly Collected Specimens 333‑024‑1070
Newborn Screening: The Newborn Screening Panel and Methods of Testing 333‑024‑1080
Newborn Screening: Result Reporting and Follow-up 333‑024‑1090
Newborn Screening: Use, Release and Retention of Residual Specimens 333‑024‑1100
Newborn Screening: Ordering Specimen Collection Kits and Fees 333‑024‑1110
Newborn Screening: Failure to Comply 333‑024‑2000
Fees for Communicable Disease Tests Performed in the State Laboratory
Last Updated

Jun. 8, 2021

Rule 333-024-1070’s source at or​.us