Pennsylvania | Newborn Screening

State Newborn Screening Panel

2,4 Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3methlglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic acidemia
Benign hyperphenylalaninemia
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase type I deficiency
Carnitine palmitoyltransferase type II deficiency
Carnitine uptake defect
Citrullinemia
Citrullinemia type II
Congenital adrenal hyperplasia
Critical congenital heart defects
Cystic fibrosis
Galactoepimerase deficiency
Galactokinase deficiency
Globoid cell leukodystrophy (Krabbe disease)
Glutaric acidemia type I
Glutaric acidemia type II
Glycogen storage disease type II (Pompe disease)
Guanidinoacetate methyltransferase deficiency
Hemoglobin point mutation testing detects hemoglobin D, E, and O
Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency- MCD)
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3-hydroxy acyl-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 (Cbl A,B)
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria (Cbl C,D)
Mucopolysaccharidosis type I (Hurler syndrome)
Mucopolysaccharidosis type II
Newborn hearing screening
Phenylketonuria
Primary congenital hypothyroidism
Propionic acidemia
S-beta thalessemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell anemia
Sickle-C disease
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Transferase deficient galactosemia (classical)
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy

Contacts and Support

State Newborn Screening Program

Pennsylvania Newborn Screening

Phone: 717-783-8143

FAX: 717-724-6995

Email: jebixler@pa.gov

Pennsylvania Newborn Screening Website

Early Hearing Detection and Intervention

Pennsylvania EHDI Program

Phone: 717-783-8143

FAX: 717-705-9386

Email: mbeall@pa.gov

Pennsylvania 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