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VIDEO: What tests are used to help diagnose a patient with Aromatic L-amino Acid Decarboxylase (AADC) Deficiency?

Keith Hyland, PhD, reviews diagnostic tests that can confirm an AADC Deficiency diagnosis

Hyland: The consensus guidelines at the moment say that 1 test is not enough. And in reality, you should probably do 3. Normally the 3 tests that they are suggesting at the moment are the plasma enzyme assay, sequencing, and the spinal fluid analysis.

At the end of the day, if you get 3 of those or 2 or 3 of those tests showing positive you’re absolutely, definitely sure that that patient has AADC Deficiency.