Table - Summary of Nominated Conditions to the RUSP (PDF - 131 KB)
Conditions added to the Recommended Uniform Screening Panel (RUSP) by the Secretary
Spinal Muscular Atrophy (2018)
External Evidence Review
- Executive Summary (PDF - 134 KB)
- Summary (PDF - 592 KB)
- External Evidence Review Report (PDF - 1.5 MB)
X-Linked Adrenoleukodystrophy (2015)
External Evidence Review
- Executive Summary (PDF - 35 KB)
- Summary (PDF - 500 KB)
- External Evidence Review Report (PDF - 75 pages)
Mucopolysaccharidosis Type 1 (2015)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Summary (PDF - 395 KB)
- External Evidence Review Report (PDF - 67 pages)
Pompe Disease (2013)
External Evidence Review
- Executive Summary (PDF - 23 KB)
- Summary (PDF - 430 KB)
- External Evidence Review Report (PDF - 81 pages)
Critical Congenital Cyanotic Heart Disease (2010)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Summary (PDF - 1 MB)
- External Evidence Review Report (PDF - 46 pages)
- Letter from Review Group (PDF - 1 page)
Severe Combined Immunodeficiency (2009)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Summary (PDF - 198 KB)
- External Evidence Review Report (PDF - 80 pages)
- External Evidence Review Letter (PDF - 1 page)
Conditions not recommended for the RUSP
Cerebrotendinous Xanthomatosis (2018)
- Letter from Committee (PDF - 151 KB)*
Guanidinoacetate Methyltransferase Deficiency (2016)
- Letter from Committee (PDF - 2 pages)
22q11.2 Deletion Syndrome (2012)
- Letter from Committee (PDF - 2 pages)
Neonatal Hyperbilirubinemia (2012)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Summary (PDF - 563 KB)
- External Evidence Review Report (PDF - 118 pages)
- External Evidence Review Letter (PDF - 1 page)
- Letter from Committee (PDF - 2 pages)
Hemoglobin H (2010)
External Evidence Review
- Executive Summary (PDF - 23 KB)
- Summary (PDF - 512 KB)
- External Evidence Review Report (PDF - 56 pages)
- External Evidence Review Letter (PDF - 1 page)
- Letter from Committee (PDF - 2 page)
Krabbe Disease (2009-2010)
External Evidence Review
- Executive Summary (PDF - 23 KB)
- Summary (PDF - 543 KB)
- External Evidence Review Report (PDF - 51 pages)
- External Evidence Review Letter (PDF - 1 page)
- Letter from Committee (PDF - 2 pages)
Fabry Disease (2008)
- Letter from Committee (PDF - 1 page)
Niemann-Pick Disease (2008)
- Letter from Committee (PDF - 1 page)
Pompe Disease (2008)
- External Evidence Review Report (PDF - 28 pages)
- Letter from Committee (PDF - 2 pages)
Spinal Muscle Atrophy (2008)
- Letter from Committee (PDF - 1 page)
*Individuals using assistive technology may not be able to fully access information in this file. For assistance, please email HRSAAccessibility@hrsa.gov.