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.

 

More Information