Target Diseases
Here is the current list of NSO target diseases included in dried blood spot newborn screening, including suggested LIS codes for documentation.
Amino Acidemias
| Phenylketonuria and Variants / Biopterin defects | NBS-PKU |
| Maple Syrup Urine Disease | NBS-MSUD |
| Homocystinuria (Hypermethioninemias) | NBS-HCY |
| Citrullinemias / Argininosuccinic Aciduria | NBS-CIT |
| Tyrosinemias | NBS-TYR |
| Amino Acidopathies, other | NBS-AA |
Organic Acidemias
| Propionic / Methylmalonic Acidemias | NBS-C3 |
| Isovaleric Acidemia / 2 Methylbutyric Acidemia | NBS-C5 |
| Glutaric Acidemia Type 1 | NBS-C5DC |
| Guanidinoacetate Methyltransferase Deficiency | NBS-GAMT |
| Organic Acidemias, other | NBS-OA |
Fatty Acid Oxidation Defects
| Medium Chain Acyl Co-A Dehydrogenase Deficiency / Glutaric Acidemia Type 2 | NBS-MCAD |
| Very Long Chain Acyl CoA-Dehydrogenase Deficiency | NBS-VLCAD |
| Long Chain Hydroxyl Acyl Dehydrogenase / Trifunctional Protein Deficiencies | NBS-LCHAD |
| Carnitine Uptake Defect | NBS-CUD |
| Fatty Acid Oxidation Disorders, other | NBS-FA |
| Galactosemia | NBS-GALT |
| Biotinidase Deficiency | NBS-BIOT |
Endocrine Disorders
| Congenital Hypothyroidism | NBS-CH |
| Congenital Adrenal Hyperplasia | NBS-CAH |
| Sickle Cell and other Hemoglobinopathies | NBS-HGB |
| Cystic Fibrosis | NBS-CF |
| Severe Combined Immune Deficiency | NBS-SCID |
| Spinal Muscular Atrophy | NBS-SMA |
| Mucopolysaccharidosis Type 1H (MPS1H or Hurler Disease) | NBS-MPS1H |
Please note that 3 Methylcrotonic / Hydroxymethylglutaric / Methylglutaconic / 2-Methyl, Hydroxybutyric Acidemias and β-Ketothiolase Deficiency were removed from the NSO Screening Panel on December 4, 2017.
Contact Us
Children’s Hospital of Eastern Ontario
415 Smyth Road
Ottawa, Ontario K1H 8M8
Toll-Free: 1-877-627-8330
Local: (613) 738-3222
Fax: (613) 738-0853
Contact NSO
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