Tyrosine Hydroxylase (TH) Deficiency

Sponsored diagnostic testing programs for Tyrosine Hydroxylase (TH) Deficiency

TH deficiency impairs dopamine synthesis, causing movement disorders, developmental delay, hypotonia, and sometimes oculogyric crises. Severity ranges from mild dopa-responsive dystonia to severe infantile encephalopathy. Genetic testing confirms the diagnosis and guides dopamine-based therapy.

1 program found for Tyrosine Hydroxylase (TH) Deficiency

Programs

1 program
Invitae Unlock™

Invitae Epilepsy Panel

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.

Neurology
ViewOrder
Performing labInvitae | Labcorp