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Department of Health and Human Services
Discretionary 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

Critical Congenital Cyanotic Heart Disease (2010)

Severe Combined Immunodeficiency (2009)

 

Conditions in progress

Pompe Disease (2013)

 

Conditions not recommended for the RUSP

22q11.2 Deletion Syndrome (2012)

Adrenoleukodystrophy (ALD) (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)