Sponsored diagnostic testing programs for Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare neurotransmitter synthesis disorder that leads to severe motor, developmental, and autonomic symptoms. Affected individuals may experience hypotonia, movement disorders, oculogyric crises, and global developmental delay. Genetic testing confirms the diagnosis and supports treatment planning and family counseling.
1 program found for Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.
