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 53
Citrullinemia, type I - CIT 53
Classic phenylketonuria - PKU 53
Homocystinuria - HCY 53
Maple syrup urine disease - MSUD 53
Tyrosinemia, type I - TYR I 53
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 53
S,C disease - Hb S/C 53
S,S disease (Sickle cell anemia) - Hb SS 53
Lysosomal Storage Disorders
Mucopolysaccharidosis I - MPS I 45 7 1
Pompe 44 9
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 2 51
Cystic fibrosis - CF 52 1
Hearing loss - HEAR 53
Severe Combined Immunodeficiencies - SCID 5 47 1
X-linked Adrenoleukodystrophy 48 5
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 12 36 4 1
Benign hyperphenylalaninemia - H-PHE 4 36 13
Biopterin defect in cofactor biosynthesis - BIOPT (BS) 9 21 15 8
Biopterin defect in cofactor regeneration - BIOPT (RG) 9 22 14 8
Citrullinemia, type II - CIT II 3 36 13 1
Hypermethioninemia - MET 5 34 13 1
Tyrosinemia, type III - TYR III 6 29 17 1
Tyrosinemia, type II - TYR II 3 37 12 1
Fatty Acid Disorders
2,4 Dienoyl-CoA reductase deficiency - DE RED 28 21 3 1
Carnitine acylcarnitine translocase deficiency - CACT 5 43 4 1
Carnitine palmitoyltransferase type I deficiency - CPT IA 11 29 12 1
Carnitine palmitoyltransferase type II deficiency - CPT II 5 43 4 1
Glutaric acidemia type II - GA2 5 36 11 1
Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT 21 17 15
Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD 23 26 3 1
Short-chain acyl-CoA dehydrogenase deficiency - SCAD 10 35 7 1
Hemoglobin Disorders
S, Beta 0-thalassemia - Hb S/B0Th 44 4 5
Various other hemoglobinopathies - Var Hb 43 10
Organic Acid Disorders
2-Methyl-3-hydroxybutyric aciduria - 2M3HBA 10 26 17
2-Methylbutyrylglycinuria - 2MBG 7 29 16 1
3-Methylglutaconic aciduria - 3MGA 5 33 14 1
Isobutyrylglycinuria - IBG 11 29 12 1
Malonic acidemia - MAL 12 33 7 1
Methylmalonic acidemia with homocystinuria - Cbl C,D 4 39 9 1
Other Disorders
Galactoepimerase deficiency - GALE 27 11 8 7
Galactokinase deficiency - GALK 27 11 8 7
T-cell related lymphocyte deficiencies 46 1 6
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 45 8
Hyperornithinemia with Gyrate Deficiency - Hyper ORN 48 5
Nonketotic Hyperglycinemia - NKH 47 4 2
Ornithine transcarbamylase deficiency - OTC 45 6 2
Prolinemia Type I/ Type II - PRO 51 2
Lysosomal Storage Disorders
Fabry 49 3 1
Gaucher 49 3 1
Krabbe Disease 48 5
Mucopolysaccharidosis II - MPS II 53
Niemann Pick 50 2 1
Organic Acid Disorders
Ethylmalonic encephalopathy - EME 48 4 1
Other Disorders
Congenital Toxoplasmosis - TOXO 49 4
Cytomegalovirus - CMV 19
Formiminoglutamic acidemia - FIGLU 50 3
Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD 51 2
Guanidinoacetate Methyltransferase - GAMT 18 1
Human Immunodeficiency Virus - HIV Exposure 51 1 1
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH 42 10 1
Pyroglutamic acidemia - 5-OXO 51 2
Spinal Muscular Atrophy - SMA 12
Zellweger Syndrome 53