TABLE 4.
Conditions meeting the 70% threshold across concepts to identify readiness for NBS pilots.
| Condition, test and treatment> 3.5(n = 15) | Condition and test> 3.5(n = 8) | Condition and treatment> 3.5(n = 8) | Condition > 3.5(n = 12) | All concepts <3.5(n = 3) |
|---|---|---|---|---|
| Acute neonatal bilirubin encephalopathy | Duchenne muscular dystrophy | BCKDK deficiency | Cerebrotendinous xanthomatosis | 3-phosphoglycerate DH deficiency |
| AGAT deficiency | Fragile X | Brown vialetto van laere syndrome | Chr. 22 Deletion q11.2 | Adenine phosphoribosyltransferase deficiency |
| Arginase deficiency | MPS IVA | CPS deficiency | Congenital toxoplasmosis | Pyruvate DH lipoic acid synthetase deficiency |
| Cbl C, D deficiency | MTHFR deficiency | Familial hypercholesterolemia | Creatine transporter deficiency | |
| Congenital HIV | NCL2 neuronal ceroid lipofuscinosis | NAGS deficiency | Cytomegalovirus | |
| CPT1A Deficiency | Niemann Pick A/B disease | OTC Deficiency | Friedreich Ataxia | |
| Fabry | MPS IIIA | Wilson Disease | Krabbe Disease | |
| G6PD | Smith lemli opitz syndrome | Wolman Disease | Menkes Disease | |
| GAMT deficiency | Metachromatic Leukodystrophy | |||
| Gaucher | Molybdenum cofactor Deficiency | |||
| Hemoglobin H disease | Niemann Pick C Disease | |||
| MPS II | Pyruvate carboxylase deficiency | |||
| MPS VI | ||||
| MPS VII | ||||
| Pyridoxine responsive epilepsy |