Sec. 10.52.12.05. Selection of Disorders for Screening

A. The Department, with the advice of the Council, shall select the disorders for which screening is required by the Newborn Screening Program.

B. The selected disorders are:

(1) Biotinidase deficiency;

(2) Congenital adrenal hyperplasia (CAH);

(3) Hypothyroidism;

(4) Galactosemia, galactose-1-phosphate uridyl transferase deficiency (GALT);

(5) Epimerase Galactosemia, uridine diphosphate-galactose-4-epimerase deficiency (GALE);

(6) Galactokinase Galactosemia, galactokinase deficiency (GALK1);

(7) Sickle cell disease;

(8) Sickle cell disease: S beta-thalessemia;

(9) Sickle C disease: SC disease;

(10) Other hemoglobin variants;

(11) Phenylketonuria (PKU);

(12) Hyperphenylalaninemia (Hyper-PHE);

(13) Biopterin cofactor biosynthesis defects (BIOPT-BS);

(14) Biopterin cofactor regeneration defects (BIOPT-REG);

(15) Tyrosinemia, type I;

(16) Tyrosinemia, type II;

(17) Tyrosinemia, type III;

(18) Homocystinuria;

(19) Hypermethioninemia;

(20) Branched chain ketoaciduria (BCK), also called maple syrup urine disease (MSUD);

(21) Citrullinemia, type I;

(22) Citrullinemia, type II;

(23) Arginosuccinic aciduria;

(24) Argininemia;

(25) Methylmalonic acidemia, mutase deficiency (MMA);

(26) Methylmalonic acidemia, adenosylcobalamin synthesis defects A and B (Cbl A, B);

(27) Methylmalonic acidemia, adenosylcobalamin synthesis defects C and D (Cbl C, D);

(28) Propionic acidemia (PA);

(29) Isovaleric acidemia (IVA);

(30) Glutaric aciduria type I (GA I);

(31) 3-Hydroxy-3-methylglutaryl-CoA (HMG) lysase deficiency;

(32) Isobutryl-CoA dehydrogenase (IBCD) deficiency;

(33) 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG);

(34) 3-Methlycrotonyl-CoA carboxylase deficiency (3MCC);

(35) 3-Methlyglutaconyl-CoA hydratase deficiency (3MGA);

(36) 2-Methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (2M3HBA);

(37) Mitochondrial acetoacetyl-CoA thiolase (3-ketothiolase) deficiency (BKT);

(38) Multiple carboxylase deficiency (MCD);

(39) Malonic acidemia (MAL);

(40) Medium chain acyl-CoA dehydrogenase deficiency (MCAD);

(41) Medium chain ketoacyl-CoA thiolase deficiency (MCKAT);

(42) Short chain acyl-CoA dehydrogenase deficiency (SCAD);

(43) Short chain 3-hydroxy acyl Co-A dehydrogenase deficiency (SCHAD);

(44) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)

(45) 3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD);

(46) Multiple acyl-CoA dehydrogenase (MAD) or glutaric acidemia type II deficiency (GA II);

(47) Carnitine/acylcarnitine translocase deficiency (translocase deficiency);

(48) Carnitine palmitoyl transferase type I deficiency (CPT I);

(49) Carnitine palmitoyl transferase type II deficiency (CPT II);

(50) Carnitine uptake disorder;

(51) Trifunctional protein deficiency (TFP);

(52) 2,4-dienoyl-CoA reductase deficiency (DE RED);

(53) Cystic fibrosis; and

(54) Severe combined immunodeficiency (SCID).

C. Supplemental Tests. The State’s Newborn Screening Program may not request or perform a supplemental test until the public health laboratory has confirmed there is sufficient blood-spot specimen to test for the required panel of disorders set forth in §B of this regulation.