Kentucky Newborn Screening Program
Phone: 502-564-2154
FAX: 502-564-1510
Kentucky Newborn Screening Program Website
Total number of conditions screened in this state: 59
2-methyl-3-hydroxybutyric aciduria2-methylbutyryl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic acidemia
Beta-ketothiolase deficiency
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase deficiency, type I
Carnitine palmitoyl transferase deficiency, type II
Carnitine uptake deficiency
Citrullinemia type I
Citrullinemia type II
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Ethylmalonic encephalopathy
Galactosemia
Glutaric acidemia type I
Glutaric acidemia type II
Hearing loss
Hemoglobinopathies variant disorders
Homocystinuria
Hypermethioninemia
Hyperphenylalaninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium chain acyl-CoA dehydrogenase deficiency
Methylglutaric aciduria
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia mutase deficiency
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis type I
Multiple carboxylase deficiency
Non-ketotic hyperglycinemia
Ornithine transcarbamylase deficiency
Phenylketonuria
Pompe
Propionic acidemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell disease
Sickle cell hemoglobin C disease
Sickle cell S beta thalassemia
Sickle cell trait
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Various hemoglobinopathies
Very long-chain acyl-CoA deficiency
X-Adrenoleukodystrophy
Last Reviewed 03/01/2023
