Connecticut’s NBS Panel checks for certain health conditions in newborns. These conditions come from a national list called the Recommended Uniform Screening Panel (RUSP), created by the U.S. Department of Health & Human Services, and also from state laws. Connecticut's panel may detect over 60 different disorders.
Please note: Disorders with stars (*) are core RUSP conditions or are legislatively mandated. All other conditions may be detected when screening for a core condition. In newborn screening, core conditions are the health problems the test is meant to find; secondary conditions are other conditions the test can find while checking for a core condition or during follow-up testing.
Learn more about the Recommended Uniform Screening Panel
Disorders A to Z
0-9
- 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
- 2-Methylbutyrylglycinuria (2MBG)
- 2,4 Dienoyl CoA Reductase Deficiency (DE RED)
- 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency (HMG)*
- 3-Methylcrotonyl CoA Carboxylase Deficiency (3 MCC)*
- 3-Methylglutaconic Aciduria (3MGA)
A
- Adenosine Deaminase Deficiency (ADA SCID)*
- Alpha-Thalassemia (Bart's Hgb)
- Argininemia (ARG)*
- Argininosuccinic Aciduria (ASA)
B
- Beta-Ketothiolase Deficiency (BKT)*
- Beta-Thalassemia (Cooley’s Anemia)
- Biotinidase Deficiency (BIO)*
- Biopterin Defect in Cofactor Biosynthesis (BIOPT (BS))
- Biopterin Defect in Cofactor Regeneration (BIOPT (REG))
C
- Carnitine Palmitoyltransferase I Deficiency(CPT I)
- Carnitine Palmitoyltransferase Type II Deficiency (CPT II)
- Carnitine Acylcarnitine Translocase Deficiency (CACT)*
- Carbamoyl Phosphate Synthetase 1 Deficiency (CPS)
- Carnitine Uptake Deficiency (CUD)*
- Citrullinemia, Type I (CIT I)*
- Citrullinemia, Type II (CIT II)
- Congenital Adrenal Hyperplasia (CAH)*
- Congenital Cytomegalovirus (cCMV)
- Congenital Hypothyroidism (CH)*
- Critical Congenital Heart Disease (CCHD)*
- Cystic Fibrosis (CF)*
D
E
G
- Galactosemia (GALT)*
- Galactokinase Deficiency (GALK)
- Galactoepimerase Deficiency (GALE)
- Glutaric Acidemia, Type I (GA 1)*
- Glutaric Acidemia, Type II (GA 2)
- Glycogen Storage Disease, Type II (Pompe Disease) (GSD)*
- Guanidinoacetate Methyltransferase Deficiency (GAMT)*
H
- Hearing loss (Hearing)*
- Hemoglobin SS Disease (Hgb SS)*
- Hemoglobin S, βeta-thalassemia Disease (Hgb S/BTh)*
- Hemoglobin SC Disease (Hgb SC)*
- Hemoglobin C Trait (Carrier) (Hgb FAC)
- Hemoglobin D Trait (Carrier) (Hgb FAD)
- Hemoglobin E Trait (Carrier) (Hgb FAE)
- Hemoglobin S Trait (Carrier) (Hgb FAS)
- Hemoglobin Variant Trait (Hgb FA Other)
- Beta-Thalassemia Trait (Beta thalassemia minor)
- Alpha-Thalassemia Trait (Alpha thalassemia minor)
- Homocystinuria (HCY)*
- Homocystinuria due to MTHFR Deficiency(HCY due to MTHFR Deficiency)
- Hypermethioninemia (MET)
I
L
M
- Maple Syrup Urine Disease (MSUD)*
- Malonic Acidemia (MAL)
- Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)*
- Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
- Methylmalonic Acidemia caused by cobalamin A or cobalamin B deficiencies (CBL A,B)*
- Methylmalonic Acidemia due to Transcobalamin receptor defect (TCbl R)
- Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT)*
- Methylmalonic Acidemia with Homocystinuria (Cbl C,D,F)
- Multiple CoA Carboxylase Deficiency AKA Holocarboxylase Synthetase Deficiency (MCD)*
- Mucopolysaccharidosis Type I (MPS I)*
- Mucopolysaccharidosis Type II (MPS II)*
O
P
- Phenylketonuria (PKU)*
- Hyperphenylalaninemia (PHE)
- Propionic Acidemia (PPA)*
- Pyruvate Carboxylase Deficiency (PC)
S
- Severe Combined Immunodeficiencies (SCID)*
- Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
- Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1 (SMA)*
T
- T-cell Related Lymphocyte Deficiencies
- Tyrosinemia (TYR)*
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III(TYR III)
- Trifunctional Protein Deficiency (TFP)*