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Department of Health and Human Services
Advisory Committee on Heritable Disorders in Newborns and Children
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Nominated Conditions


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

X-Linked Adrenoleukodystrophy (2015)

Mucopolysaccharidosis Type 1 (2015)

Pompe Disease (2013)

Critical Congenital Cyanotic Heart Disease (2010)

Severe Combined Immunodeficiency (2009)


Conditions not recommended for the RUSP

Guanidinoacetate Methyltransferase Deficiency (2016)

22q11.2 Deletion Syndrome (2012)

Fabry Disease (2008)

Hemoglobin H (2010)

Krabbe Disease (2009-2010)

Neonatal Hyperbilirubinemia (2012)

Niemann-Pick Disease(2008)

Pompe Disease (2008)

Spinal Muscle Atrophy (2008)