Tetrahydrobiopterin-Deficient Hyperphenylalaninemia Due to Quinoid Dihydropteridine Reductase (DHPR) Deficiency

Sponsored diagnostic testing programs for Tetrahydrobiopterin-Deficient Hyperphenylalaninemia Due to Quinoid Dihydropteridine Reductase (DHPR) Deficiency

DHPR deficiency impairs tetrahydrobiopterin recycling, causing elevated phenylalanine levels and neurotransmitter deficiency. Affected infants may present with hypotonia, developmental delay, or seizures. Genetic testing confirms the diagnosis and guides targeted metabolic and neurotransmitter therapy.

1 program found for Tetrahydrobiopterin-Deficient Hyperphenylalaninemia Due to Quinoid Dihydropteridine Reductase (DHPR) 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
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Performing labInvitae | Labcorp