Newborn screening (NBS) identifies many health conditions. The conditions screened for varies by state and territory where a baby is born.
This information center contains information on each of the conditions listed in the Recommended Uniform Screening Panel (RUSP). States and territories may or may not screen for all of these conditions. This information center also includes information on other conditions that are not listed on the RUSP but are screened in some states.
On each condition page, you will find:
- Information about the condition’s NBS test
- Follow-up steps
- Description of the condition
- Signs, symptoms, causes, and treatments
- Resources for more information and support
These pages are updated periodically as we learn more about current NBS conditions and states begin screening for new conditions.
0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
0-9
- 2,4 Dienoyl-CoA reductase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria
A
B
- Beta-ketothiolase deficiency
- Biopterin defect in cofactor biosynthesis
- Biopterin defect in cofactor regeneration
- Biotinidase deficiency
C
- Carbamoyl Phosphate Synthetase I Deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Citrullinemia, type I
- Citrullinemia, type II
- Classic galactosemia
- Classic phenylketonuria
- Congenital adrenal hyperplasia
- Congenital cytomegalovirus
- Congenital hypothyroidism
- Congenital Toxoplasmosis
- Critical congenital heart disease
- Cystic fibrosis
D
E
F
G
- Galactoepimerase deficiency
- Galactokinase deficiency
- Gaucher Disease
- Glucose-6-phosphate Dehydrogenase Deficiency
- Glutamate Formiminotransferase Deficiency
- Glutaric acidemia type I
- Glutaric acidemia type II
- Glutathione Synthetase Deficiency
- Guanidinoacetate Methyltransferase Deficiency
- Gyrate Atrophy of the Choroid and Retina
H
- Hemoglobin Trait/Carrier
- Holocarboxylase synthetase deficiency
- Homocystinuria
- HSD10 disease
- Human Immunodeficiency Virus
- Hypermethioninemia
- Hyperprolinemia
I
K
L
M
- Malonyl-CoA decarboxylase deficiency
- Maple syrup urine disease
- Medium-chain acyl-CoA dehydrogenase deficiency
- Medium-chain ketoacyl-CoA thiolase deficiency
- Methylmalonic acidemia (cobalamin disorders)
- Methylmalonic acidemia (methylmalonyl-CoA mutase)
- Methylmalonic acidemia with homocystinuria
- Mitochondrial trifunctional protein deficiency
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis Type II
N
O
P
S
- S, βeta-thalassemia
- S,C disease
- S,S disease (sickle cell anemia)
- Severe combined immunodeficiencies
- Short/branched chain acyl-CoA dehydrogenase deficiency
- Short-chain acyl-CoA dehydrogenase deficiency
- Spinal muscular atrophy
T
- T-cell related lymphocyte deficiencies
- Tyrosinemia type I
- Tyrosinemia, type II
- Tyrosinemia, type III
V
X
Z
Date Last Reviewed: