Argininemia

Living with

What does a positive newborn screening mean for argininemia?

If your baby receives a positive result for argininemia 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 argininemia. Doctors can test a blood sample to detect reduced activity of the arginase enzyme and confirm a diagnosis. This test is called an enzyme assay. Doctors can also confirm a diagnosis through molecular genetic testing. These tests study the ARG1 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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/argininemia/living-with/61618 • DATE UPDATED: 2017-06-05

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