Screened Conditions Report
Data represents 53 newborn screening programs, inclusive of all 50 US states, the District of Columbia, Puerto Rico and Guam.
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 | 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 | 52 | 1 | ||
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 | 10 | 43 | ||
Mucopolysaccharidosis II - MPS II | 49 | 4 | ||
Pompe | 7 | 46 | ||
Organic Acid Disorders | ||||
3-Hydroxy-3-methyglutaric aciduria - HMG | 53 | |||
3-Methylcrotonyl-CoA carboxylase deficiency - 3-MCC | 51 | 2 | ||
Beta-Ketothiolase deficiency - BKT | 53 | |||
Glutaric acidemia type I - GA1 | 53 | |||
Holocarboxylase synthetase deficiency - MCD | 52 | 1 | ||
Isovaleric acidemia - IVA | 53 | |||
Methylmalonic acidemia (cobalamin disorders) - Cbl A,B | 53 | |||
Methylmalonic acidemia (methylmalonyl-CoA mutase) - MUT | 53 | |||
Propionic acidemia - PROP | 53 | |||
Other Disorders | ||||
Biotinidase deficiency - BIOT | 53 | |||
Classic galactosemia - GALT | 53 | |||
Critical congenital heart disease - CCHD | 52 | 1 | ||
Cystic fibrosis - CF | 53 | |||
Guanidinoacetate Methyltransferase - GAMT | 50 | 3 | ||
Hearing loss - HEAR | 53 | |||
Severe Combined Immunodeficiencies - SCID | 53 | |||
Spinal Muscular Atrophy - SMA | 4 | 49 | ||
X-linked Adrenoleukodystrophy | 16 | 37 |
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 | 36 | 6 | |
Benign hyperphenylalaninemia - H-PHE | 3 | 31 | 19 | |
Biopterin defect in cofactor biosynthesis - BIOPT (BS) | 8 | 17 | 22 | 6 |
Biopterin defect in cofactor regeneration - BIOPT (RG) | 8 | 18 | 21 | 6 |
Citrullinemia, type II - CIT II | 2 | 35 | 16 | |
Hypermethioninemia - MET | 3 | 33 | 17 | |
Tyrosinemia, type II - TYR II | 2 | 36 | 15 | |
Tyrosinemia, type III - TYR III | 3 | 30 | 20 | |
Fatty Acid Disorders | ||||
2,4 Dienoyl-CoA reductase deficiency - DE RED | 29 | 21 | 3 | |
Carnitine acylcarnitine translocase deficiency - CACT | 4 | 42 | 7 | |
Carnitine palmitoyltransferase type I deficiency - CPT IA | 9 | 30 | 14 | |
Carnitine palmitoyltransferase type II deficiency - CPT II | 4 | 42 | 7 | |
Glutaric acidemia type II - GA2 | 3 | 35 | 15 | |
Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT | 19 | 17 | 17 | |
Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD | 24 | 25 | 4 | |
Short-chain acyl-CoA dehydrogenase deficiency - SCAD | 13 | 32 | 8 | |
Hemoglobin Disorders | ||||
S, Beta 0-thalassemia - Hb S/B0Th | 28 | 16 | 9 | |
Various other hemoglobinopathies - Var Hb | 40 | 13 | ||
Organic Acid Disorders | ||||
2-Methyl-3-hydroxybutyric aciduria - 2M3HBA | 7 | 26 | 20 | |
2-Methylbutyrylglycinuria - 2MBG | 6 | 28 | 19 | |
3-Methylglutaconic aciduria - 3MGA | 3 | 33 | 17 | |
Isobutyrylglycinuria - IBG | 15 | 25 | 13 | |
Malonic acidemia - MAL | 12 | 34 | 7 | |
Methylmalonic acidemia with homocystinuria - Cbl C,D | 2 | 39 | 12 | |
Other Disorders | ||||
Galactoepimerase deficiency - GALE | 27 | 11 | 10 | 5 |
Galactokinase deficiency - GALK | 27 | 11 | 10 | 5 |
T-cell related lymphocyte deficiencies | 29 | 7 | 17 |
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 | 42 | 9 | 2 | |
Hyperornithinemia with Gyrate Deficiency - Hyper ORN | 47 | 5 | 1 | |
Nonketotic Hyperglycinemia - NKH | 50 | 2 | 1 | |
Ornithine transcarbamylase deficiency - OTC | 43 | 7 | 3 | |
Prolinemia Type I/ Type II - PRO | 52 | 1 | ||
Lysosomal Storage Disorders | ||||
Fabry | 45 | 8 | ||
Gaucher | 47 | 6 | ||
Krabbe Disease | 42 | 11 | ||
Niemann Pick | 51 | 2 | ||
Organic Acid Disorders | ||||
Ethylmalonic encephalopathy - EME | 44 | 5 | 4 | |
Other Disorders | ||||
Congenital Toxoplasmosis - TOXO | 50 | 3 | ||
Cytomegalovirus - CMV | 50 | 1 | 2 | |
Formiminoglutamic acidemia - FIGLU | 48 | 1 | 4 | |
Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD | 51 | 2 | ||
Human Immunodeficiency Virus - HIV Exposure | 51 | 1 | 1 | |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH | 44 | 8 | 1 | |
Pyroglutamic acidemia - 5-OXO | 52 | 1 | ||
Zellweger Syndrome | 48 | 5 |