North Carolina | Newborn Screening

State Newborn Screening Panel

2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3-methyglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase type II deficiency
Carnitine uptake defect/carnitine transport defect
Citrullinemia, type I
Citrullinemia, type II
Classic galactosemia
Classic phenylketonuria
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Galactoepimerase deficiency
Galactokinase deficiency
Glutaric acidemia type 1
Glutaric acidemia type II
Glycogen storage disease type II
Hearing loss
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disorder
Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/Short Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia, cobalamin disorders
Methylmalonic acidemia, methylmalonyl-CoA mutase
Mucopolysaccharidosis type I
Primary congenital hypothyroidism
Propionic acidemia
S, βeta-thalassemia
S,C disease
S,S disease (sickle cell anemia)
Severe combined immunodeficiency
Short-chain acyl CoA dehydrogenase deficiency
Spinal muscular atrophy due to homozygous deletion of exon 7 in SMN1
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Various other hemoglobinopathies
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy
β-ketothiolase deficiency

Contacts and Support

State Newborn Screening Program

North Carolina Newborn Screening

Phone: 919-707-5600

Phone (alt.): (919) 218-6460

Email: lara.percenti@dhhs.nc.gov

North Carolina Newborn Screening Website

Early Hearing Detection and Intervention

North Carolina EHDI Program

Phone: 919-707-5631

Phone (alt.): 866-431-7434

FAX: 919-870-4881

Email: ncnewbornhearing@dhhs.nc.gov

North Carolina EHDI Program Website

Additional Resources

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

Date Last Reviewed:

March 2024