Table 2.
US Recommended Uniform Screening Panel Secondary Conditions.
| Secondary Condition | ACMG Code | NSQAP QA Materials (Y/N) |
|---|---|---|
| Methylmalonic acidemia with homocystinuria | Cbl C,D | Y |
| Malonic acidemia | MAL | Y |
| Isobutyrylglycinuria | IBG | Y |
| 2-Methylbutyrylglycinuria | 2MBG | Y |
| 3-Methylglutaconic aciduria | 3MGA | Y |
| 2-Methyl-3-hydroxybutyric aciduria | 2M3HBA | Y |
| Short-chain acyl-CoA dehydrogenase deficiency | SCAD | Y |
| Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency | M/SCHAD | Y |
| Glutaric acidemia type II | GA2 | Y |
| Medium-chain ketoacyl-CoA thiolase deficiency | MCAT | Y |
| 2,4 Dienoyl-CoA reductase deficiency | DE RED | Y |
| Carnitine palmitoyltransferase type I deficiency | CPT IA | Y |
| Carnitine palmitoyltransferase type II deficiency | CPT II | Y |
| Carnitine acylcarnitine translocase deficiency | CACT | Y |
| Argininemia | ARG | Y |
| Citrullinemia type II | CIT II | Y |
| Hypermethioninemia | MET | Y |
| Benign hyperphenylalaninemia | H-PHE | Y |
| Biopterin defect in cofactor biosynthesis | BIOPT (BS) | Y |
| Biopterin defect in cofactor regeneration | BIOPT (REG) | Y |
| Tyrosinemia type II | TYR II | Y |
| Tyrosinemia type III | TYR III | Y |
| Various other hemoglobinopathies | Var Hb | Y |
| Galactoepimerase deficiency | GALE | N |
| Galactokinase deficiency | GALK | N |
| T-cell related lymphocyte deficiencies | - | Y |