Connecticut Newborn Screening Program
Phone: 860-920-6624
Email: adrienne.manning@ct.gov
Connecticut Newborn Screening Website
Connecticut Newborn Screening Laboratory
Phone: 860-920-6645
Email: Corina.Bello@ct.gov
Connecticut Newborn Screening Follow-Up Unit
Phone: 860-920-6622
Email: Marie.a.burlette@ct.gov
Total number of conditions screened in this state: 74
2,4 Dienoyl CoA reductase deficiency2-methyl 3 hydroxy butyric aciduria
2-methyl butyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl CoA lyase deficiency
3-methylcrotonyl coA carboxylase deficiency
3-methylglutaconic aciduria
Adenosine deaminase deficiency SCID
Alpha-thalassemia (Hb Bart's syndrome and hemoglobin H disease)
Argininemia
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoyl transferase deficiency type 1
Carnitine palmitoyl transferase deficiency type 2
Carnitine uptake defect
Carnitine/acylcarnitine translocase deficiency
Citrullinemia type I
Citrullinemia type II
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Cytomegalovirus
Ethylmalonic encephalopathy
Galactoepimerase deficiency
Galactokinase deficiency
Galactosemia (Classical)
Glutaric acidemia type 1
Glutaric acidemia type 2
Hearing loss
Hemoglobin C trait (carrier)
Hemoglobin D trait (carrier)
Hemoglobin E trait (carrier)
Hemoglobin other trait (carrier)
Hemoglobin S trait (carrier)
Hemoglobinopathies (various other)
Homocystinuria
Human immunodeficiency virus
Hypermethionemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Long chain hydroxyacyl-CoA dehydrogenase deficiency
Malonic aciduria
Maple syrup urine disease
Medium chain acyl-CoA dehydrogenase deficiency
Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia
Methylmalonic acidemia caused by cobalamin A or cobalamin B deficiencies
Methylmalonic acidemia with homocystinuria (Cbl C, D)
Mucopolysaccharidosis type I
Multiple CoA carboxylase deficiency
Ornithine transcarbamylase deficiency
Phenylketonuria (Classic)
Pompe
Propionic acidemia
Pyruvate carboxylase deficiency
S, βeta-thalassemia (Sickle beta thalassemia)
S,C disease
S,S disease (Sickle cell disease)
Severe combined immunodeficiency
Short chain acyl-CoA dehydrogenase deficiency
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Very long chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy
Zellweger spectrum disorders
Last Reviewed 03/01/2023
