| Core Conditions | Primary Marker | Time Critical Condition |
| Propionic Acidemia (PA) | C3 | Yes |
| Methylmalonic Acidemia (methylmalonyl-CoA mutase) (MUT) | C3 | Yes
|
| Methylmalonic Acidemia (Cobalamin disorders) (MMA) | C3 | No
|
| Isovaleric Acidemia (IVA) | C5 | Yes
|
| 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) | C5OH | No
|
| 3-Hydroxy-3-Methylglutaric Aciduria (HMG) | C5OH | Yes
|
| Holocarboxylase Synthetase Deficiency (MCD) | C5OH | Yes
|
| Β-Ketothiolase Deficiency (BKT) | C5OH | Yes
|
| Glutaric Acidemia Type I (GA-I) | C5DC | Yes
|
| Cartnitine Uptake Defect/Carnitine Transport Defect (CUD) | C0 | No
|
| Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD) | C8 | Yes
|
| Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) | C14:1 | Yes
|
| Long-chain L3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | C16OH | Yes
|
| Trifunctional Protein Deficiency | C16OH | Yes
|
| Argininosuccinic Aciduria (ASA) | High ASA | Yes
|
| Citrullinemia, Type I (CIT) | High CIT | Yes
|
| Branched Chain Keto-Acidosis, commonly called Maple Syrup Urine Disease (MSUD) | High LEU
+
VAL | Yes
|
| Homocystinuria | High MET | No
|
| Classical Phenylketonuria | High PHE | No
|
| Tyrosinemia, Type I | Succinylacetone
present | No
|
| Primary Congenital Hypothyroidism (CH) | T4, TSH | No
|
| Congenital Adrenal Hyperplasia (CAH) | Elevated 17-OHP | Yes
|
| S,S Disease (Sickle Cell Anemia) | FS | No
|
| S, Beta Thalassemia | FSA | No
|
| S, C Disease | FSC | No
|
| Biotinidase Deficiency | Absent BIO | No
|
| Cystic Fibrosis | High IRT with two disease causing variants | No
|
| Classical Galactosemia | GALT/Total Galactose | Yes
|
| Glycogen Storage Disease Type II (Pompe) | Low GAA | Yes
|
| Severe Combined Immunodeficiencies (SCID) | TREC
(# of cycles required for PDR to identify TREC) | No
|
| Mucopolysaccharidosis Type I (MPS-I) | Low IDUA + Positive Glysosaminoglycans | No
|
| Mucopolysaccharidosis Type I (MPS-II) | Low I2S + Positive Glycosaminoglycans | No
|
| Fabry Disease (Not on RUSP) | Low GLA | No
|
| Spinal Muscular Atrophy (SMA) | Absent SMN1 | Yes
|
| X-linked Adrenoleukodystrophy (X-ALD) | Elevated C26 | No
|
