HRSA Newborn Screening
HRSA’s Newborn Screening Information Center (NBSIC) provides clear and up-to-date information, materials, and resources about NBS in the United States
The Connecticut Newborn Screening Program
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.