Utah | Newborn Screening

State Newborn Screening Panel

2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
2-methylbutyryl CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Alpha thalassemia disorders
Arginase deficiency
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine Palmitoyl Transferase-1 Deficiency
Carnitine Palmitoyl Transferase-2 Deficiency
Carnitine-acylcarnitine translocase deficiency
Citrullinemia, type I
Citrullinemia, type II
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Galactosemia
Glutaric acidemia, type I
Guanidinoacetate Methyltransferase
Hearing loss
Hemoglobin C, D, and E disorders
Hemoglobin trait (C, D, E, or Unidentified)
Homocystinuria
Hyperprolinemia type I
Hyperprolinemia type II
Isobutyryl CoA dehydrogenase deficiency
Isovaleric acidemia
Long chain 3 hydroxyacyl-CoA dehydrogenase deficiency
Malonic aciduria
Maple syrup urine disease
Medium chain acyl-CoA dehydrogenase
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis type I
Multiple carboxylase deficiency
Phenylketonuria
Pompe disease
Primary carnitine deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Severe Combined Immunodeficiency Disorder
Short chain acyl-CoA dehydrogenase deficiency
Sickle cell disease
Sickle cell trait
Spinal muscular atrophy
TFP deficiency
Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Very long chain acyl-CoA dehydrogenase
X-linked adrenoleukodystrophy

In this state, babies undergo a second screening step when they are around two weeks old. This second screening usually happens in a health care provider’s office. It can help find babies who have conditions that are hard to detect in the first days of life but that still benefit from early treatment or intervention.

Contacts and Support

State Newborn Screening Program

Utah Newborn Screening

Phone: 801-584-8256

FAX: 801-536-0966

Email: newbornscreening@utah.gov

Utah Newborn Screening Website

Early Hearing Detection and Intervention

Utah EHDI Program

Phone: 801-273-6600

FAX: 801-536-0492

Email: ehdi@utah.gov

Utah EHDI Program Website

Critical Congenital Heart Disease Screening

Utah Critical Congenital Heart Disease Screening

Phone: 866-818-7096

FAX: 801-323-1578

Email: cchd@utah.gov

Utah CCHD Website

Additional Resources

For a listing of general support, advocacy, and informational resources for Newborn Screening, visit the Resources page.

Date Last Reviewed:

September 2024