Newborn Screening Disorders (ARCHIVED)

The Newborn Screening Program screens for all of the core conditions except Spinal Muscular Atrophy, which began in June 2020. Newborn hearing loss screening and critical congenital heart disease screening are programs administered by the California Department of Health Care Services. Details of the disorders included on the RUSP can be found in the attachment: Recommended Uniform Screening Panel.pdf.

Caution must be taken in interpreting these data because there is not a one-to-one relationship between a screen-positive test result and a disorder. A newborn can be screen-positive for more than one disorder. Conversely, a positive screen for one disorder can be associated with the diagnosis of a different disorder.

Four types of sickle cell-related hemoglobinopathies (Sickle Beta0 Thalassemia, Sickle Beta+ Thalassemia, Sickle S/S Disease, and Sickle S/C Disease) were combined into one group called "Sickle Cell Disease." SCID cases are reported beginning March 2013. ALD cases are reported beginning February 2016. Pompe and MPS I cases are reported beginning August 2018.