HRSA Newborn Screening
Other Disorders
This group of conditions does not fit into any particular disorder category.
Core Conditions
Adenosine Deaminase Deficiency (ADA SCID)**
Biotinidase Deficiency (BIO)
Classic Galactosemia (GALT)
Congenital Cytomegalovirus (cCMV) expected to begin testing in July 1st, 2025**
Cystic Fibrosis (CF)***
Guanidinoacetate Methyltransferase Deficiency (GAMT)
Krabbe Disease (expected to begin testing soon)
Mucopolysaccharidosis Type-I (MPS I)
Mucopolysaccharidosis Type-II (MPS II)
Pompe Disease (POMPE)
Severe Combined Immunodeficiency (SCID)
Spinal Muscular Atrophy due to deletion of EXON 7 in SMN1 (SMA)
X-Linked Adrenoleukodystrophy (ALD)
Secondary Conditions
Galactoepimerase Deficiency (GALE)
Galactokinase Deficiency (GALK)
T-cell Related Lymphocyte Deficiencies
Peroxisomal Disorders on the Zellweger's Spectrum (ZSD) **
**The following are disorders that are screened for in Connecticut that are not on the Recommended Uniform Screening Panel. These conditions are legislatively mandated or have a validated screening method.
***CF screening is collected on filter paper cards at the birth facility and testing is completed at either the UConn CF Laboratory or the Yale CF Laboratory.