(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.
Disorders. Method: Quantitative measurement of amino acids by tandem mass
(A) Propionic acidemia
(B) Methylmalonic acidemia
(C) Isovaleric acidemia
(D) 3-methylcrotonyl CoA
carboxylase deficiency (3MCC);
3-Hydroxy-3-Methyglutaric Aciduria (HMG);
(F) Holocarboxylase Synthase
acidemia, Type I (GA-I);
Malonic acidemia (MAL);
3-Methylglutaconic aciduria; and
oxidation disorders. Method: Quantitative measurement of acylcarnitines by
tandem mass spectrometry.
(A) Carnitine uptake
(B) Medium chain
acyl-CoA dehydrogenase deficiency (MCAD);
(C) Very long chain acyl-CoA dehydrogenase
(D) Long chain
3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD);
(E) Trifunctional protein deficiency
(F) Short chain acyl-CoA
dehydrogenase deficiency (SCAD);
(G) Glutaric acidemia Type II
(H) Carnitine palmitoyl
transferase deficiency, Types I and II (CPT I and CPT II); and
(I) Carnitine acylcarnitine translocase
acid disorders. Method: Quantitative measurement of amino acids by tandem mass
(A) Argininosuccinate lyase
(B) Citrullinemia, Type
(C) Maple syrup urine
(F) Tyrosinemia, Types I,
II, and III; and
(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
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
deficiency. Method: Colorimetric or fluorometric assay for biotinidase
(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
combined immunodeficiency disease (SCID). Method: PCR to detect the absence or
presence of T-cell receptor excision circles.
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
(a) Pompe (glycogen storage
disease Type II);
Mucopolysaccharidosis Type I (MPS I);
(c) Fabry (alphagalactosidase A 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.
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.