California

State Newborn Screening Panel

2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3-methylglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Alpha thalassemia major
Argininemia
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carbamoylphosphate synthetase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine uptake defect
Citrullinemia type I
Citrullinemia type II
Classic galactosemia
Classic phenylketonuria
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Ethylmalonic encephalopathy
Formiminoglutamic acidemia
Glutaric acidemia type I
Glutaric acidemia type II
Glycogen storage disease type II (Pompe)
Gyrate atrophy of the choroid and retina
Hearing loss
Hemoglobin H disease
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperprolinemia type I
Hyperprolinemia type II
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis type I
Ornithine transcarbamylase deficiency
Primary congenital hypothyroidism
Propionic acidemia
S, β-thalassemia
S,C disease
S,S disease (sickle cell anemia)
Severe combined immunodeficiencies
Short-chain acyl-CoA dehydrogenase deficiency
Spinal muscular atrophy
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

California Newborn Screening Program

Email: NBS@cdph.ca.gov

California Newborn Screening Program Website

Early Hearing Detection and Intervention

California EHDI Program

Phone: 916-323-8087

Phone (alt.): 877-388-5301

FAX: 916-440-5305

Email: nhsp3@dhcs.ca.gov

California 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:

September 2021

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