Argininosuccinic aciduria

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What does a positive newborn screening mean for argininosuccinic aciduria?

If your baby receives a positive result for argininosuccinic aciduria from newborn screening, it does not mean that your child definitely has the disorder. Newborn screening can cause "false positives." Further testing is needed to know for sure whether a child has the disorder. Doctors can also confirm a diagnosis through molecular genetic testing. These tests study the ASL gene for changes (mutations) that can cause the disorder.

Information about newborn screening can be found at Save Babies Through Screening Foundation or Baby's First Test.

Argininosuccinic Aciduria. Baby's First Test website.

The Save Babies Through Screening Foundation website.

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