Screened Conditions Report

Condition Not Screened Universally Screened Likely to be detected and reported due to universal screening of another disorder Offered to select populations
Amino Acid Disorders
Argininosuccinic aciduria - ASA 52 1
Citrullinemia, type I - CIT 53
Classic phenylketonuria - PKU 53
Homocystinuria - HCY 53
Maple syrup urine disease - MSUD 53
Tyrosinemia, type I - TYR I 1 52
Endocrine Disorders
Congenital adrenal hyperplasia - CAH 53
Congenital hypothyroidism - CH 53
Fatty Acid Disorders
Carnitine uptake defect/carnitine transport defect - CUD 53
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency - LCHAD 53
Medium-chain acyl-CoA dehydrogenase deficiency - MCAD 53
Trifunctional protein deficiency - TFP 51 2
Very long-chain acyl-CoA dehydrogenase deficiency - VLCAD 53
Hemoglobin Disorders
S, Beta + thalassemia - Hb S/B+ Th 1 52
S,C disease - Hb S/C 53
S,S disease (Sickle cell anemia) - Hb SS 53
Lysosomal Storage Disorders
Mucopolysaccharidosis I - MPS I 38 15
Pompe 36 17
Organic Acid Disorders
3-Hydroxy-3-methyglutaric aciduria - HMG 53
3-Methylcrotonyl-CoA carboxylase deficiency - 3-MCC 50 3
Beta-Ketothiolase deficiency - BKT 53
Glutaric acidemia type I - GA1 53
Holocarboxylase synthase deficiency - MCD 51 2
Isovaleric acidemia - IVA 53
Methylmalonic acidemia (cobalamin disorders) - Cbl A,B 1 52
Methylmalonic acidemia (methylmalonyl-CoA mutase) - MUT 53
Propionic acidemia - PROP 53
Other Disorders
Biotinidase deficiency - BIOT 52 1
Classic galactosemia - GALT 52 1
Critical congenital heart disease - CCHD 53
Cystic fibrosis - CF 52 1
Hearing loss - HEAR 53
Severe Combined Immunodeficiencies - SCID 52 1
Spinal Muscular Atrophy - SMA 48 5
X-linked Adrenoleukodystrophy 40 13
Condition Not Screened Universally Screened Likely to be detected and reported due to universal screening of another disorder Offered to select populations
Amino Acid Disorders
Argininemia - ARG 11 35 6 1
Benign hyperphenylalaninemia - H-PHE 3 32 18
Biopterin defect in cofactor biosynthesis - BIOPT (BS) 8 17 21 7
Biopterin defect in cofactor regeneration - BIOPT (RG) 8 18 20 7
Citrullinemia, type II - CIT II 2 34 16 1
Hypermethioninemia - MET 3 32 17 1
Tyrosinemia, type III - TYR III 3 29 20 1
Tyrosinemia, type II - TYR II 2 35 15 1
Fatty Acid Disorders
2,4 Dienoyl-CoA reductase deficiency - DE RED 28 21 3 1
Carnitine acylcarnitine translocase deficiency - CACT 4 41 7 1
Carnitine palmitoyltransferase type I deficiency - CPT IA 10 28 14 1
Carnitine palmitoyltransferase type II deficiency - CPT II 4 41 7 1
Glutaric acidemia type II - GA2 3 34 15 1
Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT 21 15 17
Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD 23 26 3 1
Short-chain acyl-CoA dehydrogenase deficiency - SCAD 12 33 7 1
Hemoglobin Disorders
S, Beta 0-thalassemia - Hb S/B0Th 33 12 8
Various other hemoglobinopathies - Var Hb 40 13
Organic Acid Disorders
2-Methyl-3-hydroxybutyric aciduria - 2M3HBA 10 23 20
2-Methylbutyrylglycinuria - 2MBG 6 27 19 1
3-Methylglutaconic aciduria - 3MGA 4 31 17 1
Isobutyrylglycinuria - IBG 14 26 12 1
Malonic acidemia - MAL 11 34 7 1
Methylmalonic acidemia with homocystinuria - Cbl C,D 2 38 12 1
Other Disorders
Galactoepimerase deficiency - GALE 28 10 9 6
Galactokinase deficiency - GALK 28 10 9 6
T-cell related lymphocyte deficiencies 38 5 10
Condition Not Screened Universally Screened Likely to be detected and reported due to universal screening of another disorder Offered to select populations
Amino Acid Disorders
Carbamoyl phosphate synthetase I deficiency - CPS 41 11 1
Hyperornithinemia with Gyrate Deficiency - Hyper ORN 45 7 1
Nonketotic Hyperglycinemia - NKH 48 3 2
Ornithine transcarbamylase deficiency - OTC 41 9 3
Prolinemia Type I/ Type II - PRO 52 1
Lysosomal Storage Disorders
Fabry 48 4 1
Gaucher 48 5
Krabbe Disease 46 7
Mucopolysaccharidosis II - MPS II 52 1
Niemann Pick 51 2
Organic Acid Disorders
Ethylmalonic encephalopathy - EME 45 5 3
Other Disorders
Congenital Toxoplasmosis - TOXO 49 4
Cytomegalovirus - CMV 52 1
Formiminoglutamic acidemia - FIGLU 46 2 5
Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD 51 1 1
Guanidinoacetate Methyltransferase - GAMT 51 2
Human Immunodeficiency Virus - HIV Exposure 51 1 1
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH 42 10 1
Pyroglutamic acidemia - 5-OXO 51 2
Zellweger Syndrome 50 3