Inosine Triphosphate Pyrophosphohydrolase (Itpase) Deficiency

Sponsored diagnostic testing programs for Inosine Triphosphate Pyrophosphohydrolase (Itpase) Deficiency

ITPase deficiency is a genetic enzyme defect that can lead to accumulation of inosine triphosphate in red blood cells and may modify responses or toxicity to certain drugs, such as thiopurines. Clinical presentations range from asymptomatic to variable hematologic or developmental findings. Genetic testing identifies affected individuals and informs treatment decisions.

1 program found for Inosine Triphosphate Pyrophosphohydrolase (Itpase) 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