Gene disorder tests start at birth

By Jim Killackey
Published: June 6, 2006

Monday was the first day for Oklahoma newborns to be tested for a genetic disorder that can cause seizures, respiratory failure and cardiac arrest.

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Screening started for "medium-chain acyl-CoA dehydrogenase deficiency, or MCAD.

The Oklahoma Health Department mandates testing for several genetic abnormalities, and the new screening was added on Monday.

About 50,000 babies are born annually in the state.

Health authorities said the tests are designed to save lives and avoid high medical costs by allowing earlier diagnoses, intervention, and treatment of infants diagnosed with genetic disorders.

Screening is projected to identify at least three newborns a year with the disorder.

A small amount of blood is taken at the hospital from the baby's heel. The sample is taken to the state Health Department laboratory for testing. The agency has new laboratory equipment to test for a full range of medical disorders in babies.

Health authorities cited recent studies which show that the costs for hospitalization and diagnostic procedures can easily exceed $500,000 for one infant with a genetic problem.

The new test is the third major expansion of Oklahoma's newborn screening program since 2004.

Added to the list were tests for cystic fibrosis and "congenital adrenal hyperplasia, or CAH. Both are genetic disorders.

In 2005, Health Department testing pinpointed 54 newborns with a genetic disorder. The agency recommends comprehensive follow-up services and genetic counseling to families.

For more information about the newborn screening program, call Pam King, Health Department genetics coordinator, at 271-6617.


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