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 | 42 | 7 | 4 | |
| 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 | 49 | 1 | 3 | |
| 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 | 47 | 6 |