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)
- 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)*
Please note: The disorders with stars(*) are screened for in Connecticut, but are not on the Recommended Uniform Screening Panel. These conditions are legislatively mandated or have a validated screening method.
**Cystic fibrosis (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.