California Newborn Screening Program

The Disorders

The complete list of disorders detectable by Newborn Screening (PDF)

 Descriptions of Select Disorders Detectable by the California NBS Program

Metabolic Diseases    
        Phenylketonuria (PKU)
            Cofactor Variants
        Galactosemia

     Table: Descriptions of Disorders Detectable by MS/MS and Recommended Follow-up (PDF)

      For descriptions of other metabolic disorders, please see the FELSI Star-G website.

 

Endocrine Diseases
        Congenital Adrenal Hyperplasia
        Primary Congenital Hypothyroidism

 

Hemoglobin Diseases
        Sickle Cell Disease and Other Hemoglobinopathies
        Thalassemias
            Alpha Thalassemia
            Beta Thalassemia

 

Cystic Fibrosis

 

Severe Combined Immunodeficiency (SCID)

 

Newborn Screening Educational Materials