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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 NSO

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