Rhode Island

Rhode Island Newborn Screening
Phone: 401-222-5960
Email: Emily.Eisenstein@health.ri.gov

Rhode Island Newborn Screening Website

 

Total number of conditions screened in this state: 35

3-methylcrotonyl-CoA carboxylase deficiency
Argininosuccinic acidemia
Beta-ketothiolase deficiency
Biotinidase deficiency
Carnitine uptake defect
Citrullinemia
Classical galactosemia
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Glutaric acidemia type I
Glycogen storage disease type II (Pompe)
Hearing loss
Homocystinuria
Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency
Isovaleric acidemia
Long-chain 3-OH acyl-CoA dehydrogenase deficiency
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia cblA and clbB forms
Methylmalonic acidemia due to mutase deficiency
Mucopolysaccharidosis type I
Multiple carboxylase deficiency
Phenylketonuria
Propionic acidemia
Severe combined immunodeficiency
Sickle cell anemia
Sickle/beta-thalassemia
Sickle/hemoglobin C disease
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia type I
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy

 

Last Reviewed 03/01/2023