Is carrier testing available for maple syrup urine disease?
Carrier testing is available on a clinical basis in families with a history of maple syrup urine disease once the mutations have been identified in the affected individual.
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
We suggest that you speak with a genetics professional about your family history and desire for genetic testing.
Last updated: 1/19/2017
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