CHA News Article

Two Tests Added to Newborn Screening Program
CDPH increases fee to cover costs

The California Department of Public Health (CDPH) has added two tests, effective July 19, to California’s Newborn Screening Program. To cover the costs of the additional tests — for Mucopolysaccharidosis Type I (MPS I) and Pompe disease — CDPH has increased the fee from $129.25 to $141.25.

California’s statewide newborn testing program screens for over 80 genetic and metabolic disorders that can lead to severe intellectual and physical disabilities. For many of these disorders, irreversible damage has taken place by the time symptoms are observable. This can be prevented or minimized with early diagnosis through newborn screening, coupled with appropriate treatment. All California hospitals must collect a blood specimen from each newborn to send to the state-approved lab in the hospital’s service area. For details about California’s newborn screening program, see Chapter 13 of CHA’s Consent Manual – A Reference for Consent and Related Healthcare Law, or visit www.cdph.ca.gov/programs/cfh/dgds/pages/nbs/about-nbs-page.aspx

Children with MPS I often have no signs or symptoms of the condition at birth, but it is a progressive disease if not treated early, preferably before the age of 2. With MPS I, genetic mutations lead to reduced levels of a particular enzyme, ultimately causing many different organs and tissues (head, lips, cheeks, tongue, nose, vocal cords) to become enlarged, heart valve and spinal cord abnormalities, and intellectual disabilities.

Pompe disease is an inherited disorder that prevents the body from making a protein that breaks down a complex sugar in body cells. The sugar buildup in the cells impairs the ability of certain organs (liver, heart) and tissues to function normally, causing muscle weakness and trouble breathing.

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