Nebraska | Newborn Screening

State Newborn Screening Panel

2,4 Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy 3-methyl glutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic acidemia
Benign hyperphenylalaninemia
Beta ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine uptake defect/carnitine transport defect
Citrullinemia
Citrullinemia type II
Congenital adrenal hyperplasia
Congenital primary hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Galactoepimerase deficiency
Galactokinase deficiency
Galactosemia
Glutaric acidemia type 1
Glutaric acidemia type II
Hearing loss
Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency- MCD)
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium chain acyl CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia with homocystinuria (Cbl C,D)
Mucopolysaccharidosis type 1
Phenylketonuria
Pompe diseases
Propionic acidemia
Severe combined immune deficiency
Short chain acyl-CoA dehydrogenase deficiency
Sickle beta thalassemia
Sickle cell disease
Sickle hemoglobin C disease
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 acycl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy

Contacts and Support

State Newborn Screening Program

Nebraska Newborn Screening

Phone: 402-471-6558

FAX: 402-742-2332

Email: DHHS.newbornscreening@nebraska.gov

Nebraska Newborn Screening Website

Early Hearing Detection and Intervention

Nebraska EHDI Program

Phone: 402-471-6770

Phone (alt.): 888-545-0935

FAX: 402-742-2395

Email: DHHS.NEEHDI@nebraska.gov

Nebraska 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:

June 2025