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
- Executive Summary (forthcoming)
- Brief Report (forthcoming)
- External Evidence Review Full Report (PDF - 705 KB)
Guanidinoacetate Methyltransferase Deficiency (2022)
External Evidence Review
- Executive Summary (PDF - 116 KB)
- Brief Report (PDF - 840 KB)
- External Evidence Review Full Report (PDF - 931 KB)
Mucopolysaccharidosis Type II (2022)
External Evidence Review
- Executive Summary (PDF - 84 KB)
- Brief Report (PDF - 403 KB)
- External Evidence Review Full Report (PDF - 914 KB)
Spinal Muscular Atrophy (2018)
External Evidence Review
- Executive Summary (PDF - 133 KB)
- Brief Report (PDF - 603 KB)
- External Evidence Review Full Report (PDF - 1 MB)
X-Linked Adrenoleukodystrophy (2015)
External Evidence Review
- Executive Summary (PDF - 34 KB)
- Brief Report (PDF - 494 KB)
- External Evidence Review Full Report (PDF - 829 KB)
Mucopolysaccharidosis Type I (2015)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Brief Report (PDF - 389 KB)
- External Evidence Review Full Report (PDF - 1 MB)
Pompe Disease (2013)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Brief Report (PDF - 424 KB)
- External Evidence Review Full Report (PDF - 1 MB)
Critical Congenital Cyanotic Heart Disease (2010)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Brief Report (PDF - 1 MB)
- External Evidence Review Full Report (PDF - 914 KB)
- Letter from Review Group (PDF - 173 KB)
Severe Combined Immunodeficiency (2009)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Brief Report (PDF - 193 KB)
- External Evidence Review Full Report (PDF - 623 KB)
- External Evidence Review Letter (PDF - 129 KB)
Conditions Not Recommended for the RUSP
Duchenne Muscular Dystrophy (2023)
- Chair Letter to Nominator (PDF - 32 KB)
- Enclosure: Committee Summary of DMD Nomination Requirements and Key Considerations Presentation (PDF - 214 KB)
Krabbe Disease (2023)
- Executive Summary (PDF - 84 KB)
- Brief Report (PDF - 499 KB)
- Chair Letter to Nominator (PDF - 28 KB)
- Enclosure: Committee Representatives Presentation of Newborn Screening for Krabbe Disease (PDF - 683 KB)
- Enclosure: Evidence-Based Review of Newborn Screening for Krabbe Disease (PDF - 1 MB)*
Congenital Cytomegalovirus (2022)
- Chair Letter to Nominator (PDF - 54 KB)
- Enclosure: Summary of Nomination Requirements and Key Considerations (PDF - 102 KB)
Cerebrotendinous Xanthomatosis (2018)
- Chair Letter to Nominator (PDF - 150 KB)*
- Enclosure: ACHDNC Nomination and Prioritization Workgroup Presentation: CTX (PDF - 76 KB)
Guanidinoacetate Methyltransferase Deficiency (November 2016)
- Chair Letter to Nominator (PDF - 101 KB)
- Enclosure: ACHDNC Nomination and Prioritization Workgroup Presentation: Update GAMT (PDF)
Guanidinoacetate Methyltransferase Deficiency (May 2016)
- Chair Letter to Nominator (PDF - 46 KB)
- Enclosure: ACHDNC Nomination and Prioritization Workgroup Presentation: GAMT (PDF)
Adrenoleukodystrophy (2012)
- Chair Letter to Nominator (PDF - 118 KB)
- Enclosure: SACHDNC Nomination and Prioritization Workgroup Presentation: ALD (PDF)
22q11.2 Deletion Syndrome (2012)
- Chair Letter to Nominator (PDF - 33 KB)
Neonatal Hyperbilirubinemia (2012)
External Evidence Review
- Executive Summary (PDF - 21 KB)
- Brief Report (PDF - 590 KB)
- External Evidence Review Full Report (PDF - 1 MB)
- External Evidence Review Letter (PDF - 154 KB)
- Chair Letter to Nominator (PDF - 34 KB)
Hemoglobin H (2010)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Brief Report (PDF - 512 KB)
- External Evidence Review Full Report (PDF - 539 KB)
- External Evidence Review Letter (PDF - 217 KB)
- Chair Letter to Nominator (PDF - 38 KB)
Krabbe Disease (2009-2010)
External Evidence Review
- Executive Summary (PDF - 22 KB)
- Brief Report (PDF - 568 KB)
- External Evidence Review Full Report (PDF - 290 KB)
- External Evidence Review Letter (PDF - 52 KB)
- Chair Letter to Nominator (PDF - 34 KB)
Spinal Muscle Atrophy (2008)
- Chair Letter to Nominator (PDF - 21 KB)
Niemann-Pick Disease (2008)
- Chair Letter to Nominator (PDF - 19 KB)
Fabry Disease (2008)
- Chair Letter to Nominator (PDF - 21 KB)
Pompe Disease (2008)
- External Evidence Review Full Report (PDF - 158 KB)
- Chair Letter to Nominator (PDF - 25 KB)
*Individuals using assistive technology may not be able to fully access information in this file. For assistance, please email ACHDNC@hrsa.gov.