Congenital Adrenal Hyperplasia and Primary Congenital Hypothyroidism Testing

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Investigator: Robert H. Lustig, MD
Sponsor: California Department of Public Health

Location(s): United States

Description

Newborn screening tests look for serious developmental, genetic, and metabolic disorders so that important action can be taken during the critical time before symptoms develop. Most of these illnesses are very rare.

In the United States, individual states regulate newborn screening, so the diseases screened for vary considerably from state to state. Most states require three to eight tests, but organizations such as the March of Dimes and the American College of Medical Genetics suggest more than two dozen additional tests.

The most thorough screening panel checks for about 40 disorders. All 50 states screen for congenital hypothyroidism, galactosemia, and phenylketonuria (PKU).