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Outcomes of Nominations

Table - Summary of Nominated Conditions to the RUSP (PDF - 76 KB)

Conditions recommended by the SACHDNC and added to the Recommended Uniform Screening Panel (RUSP) by the Secretary:

Critical Congenital Cyanotic Heart Disease

• External Evidence Review Report (PDF - 46 pages)
• External Evidence Review Letter (PDF - 1 page)
  

Severe Combined Immunodeficiency

• External Evidence Review Report (PDF - 80 pages)
• External Evidence Review Letter (PDF - 1 page)
  
  

Conditions not recommended by the SACHDNC for inclusion on the RUSP:

Hemoglobin H

• External Evidence Review Report (PDF - 56 pages) 
• External Evidence Review Letter (PDF - 1 page) 
• Letter from Committee (PDF - 2 page)
  

Krabbe Disease

• External Evidence Review Report (PDF - 51 pages) 
• External Evidence Review Letter (PDF - 1 page) 
• Letter from Committee (PDF - 2 pages)
  

Neonatal Hyperbilirubinemia

• External Evidence Review Report (PDF - 118 pages) 
• External Evidence Review Letter (PDF - 1 page) 
• Letter from Committee (PDF - 2 pages)
  

Pompe Disease 

• External Evidence Review Report(PDF - 28 pages) 
• Letter from Committee (PDF - 2 pages)
  
  

The SACHDNC voted to not assign the following conditions to the Condition Review Workgroup:

Adrenoleukodystrophy (ALD)

• Letter from Committee (PDF - 2 pages)

22q11.2 Deletion Syndrome

• Letter from Committee (PDF - 2 pages)

Fabry Disease

• Letter from Committee (PDF - 1 page)

Niemann-Pick Disease 

• Letter from Committee (PDF - 1 page)

Spinal Muscle Atrophy

• Letter from Committee (PDF - 1 page)