Previously Nominated Conditions

Table - Summary of Nominated Conditions to the RUSP (PDF - 208 KB)

Conditions Added to the Recommended Uniform Screening Panel (RUSP) by the Secretary

Infantile Krabbe Disease [low galactocerebrosidase (GALC) and psychosine≥10nM] (2024)
External Evidence Review

Guanidinoacetate Methyltransferase Deficiency (2022)
External Evidence Review

Mucopolysaccharidosis Type II (2022)
External Evidence Review

Spinal Muscular Atrophy (2018)
External Evidence Review

X-Linked Adrenoleukodystrophy (2015)
External Evidence Review

Mucopolysaccharidosis Type I (2015)
External Evidence Review

Pompe Disease (2013)
External Evidence Review

Critical Congenital Cyanotic Heart Disease (2010)
External Evidence Review

Severe Combined Immunodeficiency (2009)
External Evidence Review

Conditions Not Recommended for the RUSP

Duchenne Muscular Dystrophy (2023)

Krabbe Disease (2023)

Congenital Cytomegalovirus (2022)

Cerebrotendinous Xanthomatosis (2018)

Guanidinoacetate Methyltransferase Deficiency (November 2016)

Guanidinoacetate Methyltransferase Deficiency (May 2016)

Adrenoleukodystrophy (2012)

22q11.2 Deletion Syndrome (2012)

Neonatal Hyperbilirubinemia (2012)
External Evidence Review

Hemoglobin H (2010)
External Evidence Review

Krabbe Disease (2009-2010)
External Evidence Review

Spinal Muscle Atrophy (2008)

Niemann-Pick Disease (2008)

Fabry Disease (2008)

Pompe Disease (2008)

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Date Last Reviewed: