California Newborn Screen

All newborns born in the state of California are screened for a variety of hematologic, metabolic, and endocrine disorders. Testing is usually done in the hospital with the first 2 days. For infants born at home or in an alternative birthing center, testing may be done in a clinic or other laboratory, but must be drawn between 12 hours and 6 days of age. Because early testing may result in false negatives for PKU in particular, any newborn tested before 12 hours of life requires a repeat newborn screen.

Disorders Detected by the California Newborn Screen

This list is believed to be accurate. However, if specific questions exist, please consult the newborn screening office directly. Contact information is provided below.

Metabolic Disorders

Carbohydrate Disorders

  • classical galactosemia

Amino Acid Disorders

  • classical phenylketonuria (PKU)
  • variant PKU
  • GTPCH deficiency (biopterin deficiency)
  • PTPS deficiency (biopterin deficiency)
  • DHPR deficiency (biopterin deficiency)
  • PH deficiency (biopterin deficiency)
  • argininemia/arginase deficiency
  • argininosuccinic acid lyase deficiency (ASAL deficiency)
  • citrullinemia, type I / argininosuccinic acid synthetase deficiency (ASAS def.)
  • citrullinemia, type II (citrin deficiency)
  • gyrate atropy of the choroid and retina
  • homocitrullinuria, hyperornithinemia, hyperammonemia (HHH)
  • homocystinuria/cystathionine beta-synthase deficiency (CBS deficiency)
  • methionine adenosyltransferase deficiency (MAT deficiency)
  • maple syrup urine disease (MSUD)
  • non-ketotic hyperglycinemia
  • prolinemia
  • tyrosinemia

Organic Acid Disorders

  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  • 2-methylbutyryl-CoA dehydrogenase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCoA lyase deficiency)
  • 3-methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency)
  • 3-methylgutaconic aciduria (MGA), type I (3-methylglutaconyl-CoA hydratase deficiency)
  • 5-oxoprolinuria
  • beta-ketothiolase deficiency (BKT)
  • biotinidase deficiency, profound type (BD)
  • ethylmalonic encephalopathy (EE)
  • glutaric acidemia, type 1 (GA-1)
  • isobutyryl-CoA dehydrogenase deficiency
  • isovaleric acid acidemia (IVA)
  • malonic aciduria
  • methylmalonic acidemia, mut -
  • methylmalonic acidemia, mut 0
  • methylmalonic acidemia (Cbl A,B)
  • methylmalonic acidemia (Cbl C,D)
  • multiple carboxylase deficiency (MCD)
  • propionic acidemia (PA)

   Fatty Acid Oxidation Disorders

  • carnitine transporter deficiency
  • carnitine-acylcarnitine translocase deficiency (CAT deficiency)
  • carnitine palmitoyl transferase deficiency - type 1 (CPT-1 deficiency)
  • carnitine palmitoyl transferase deficiency - type 2 (CPT-2 deficiency)
  • long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency)
  • medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
  • multiple acyl-CoA dehydrogenase deficiency (MAD deficiency) / glutaric acidemia type 2 (GA-2)
  • short chain acyl-CoA dehydrogenase deficiency (SCAD deficiency)
  • trifunctional protein deficiency (TFP deficiency)
  • very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)

Endocrine Disorders

  • primary congenital hypothyroidism
  • variant hypothyroidism
  • congenital adrenal hyperplasia - salt wasting (21-hydroxylase deficiency)
  • congenital adrenal hyperplasia - simple virilizing (21-hydroxylase deficiency)

Hemoglobin Disorders

  • sickle cell anemia (Hb SS disease)
  • sickle C disease (Hb SC disease)
  • sickle D disease (Hb SD disease)
  • sickle E disease (Hb SE disease)
  • Hb S/hereditary persistence of fetal hemoglobin (Hb S/HPFH)
  • sickle cell disease variant (other sickle cell disease, Hb SV)
  • Hb S/Beta0 thalassemia
  • Hb S/Beta+ thalassemia
  • Hb C disease (Hb CC)
  • Hb D disease (Hb DD)
  • alpha thalassemia major
  • Hb H disease
  • Hb H/Constant Spring disease
  • beta thalassemia major
  • Hb E/Beta0 thalassemia
  • Hb E/Beta+ thalassemia
  • Hb E/Delta Beta thalassemia
  • Hb C/Beta0 thalassemia
  • Hb C/Beta+ thalassemia
  • Hb D/Beta0 thalassemia
  • Hb D/Beta+ thalassemia
  • Hb Variant/Beta0 thalassemia
  • Hb Variant/Beta+ thalassemia
  • other hemoglobinopathies (Hb variants)

Other Disorders

  • cystic fibrosis (CF)
Disorders

Disorders

Contact Information

  • Office of Newborn Screening at Stanford
    650-724-8120
  • Dept of Health Services, Newborn Screening
    510-412-1502

If you are a physician and need to talk to the staff at the Newborn Screening Program at Stanford University, please call 650-724-8120