Sponsored diagnostic testing programs for Adenylosuccinate Lyase (ADSL) Deficiency
Adenylosuccinate lyase (ADSL) deficiency is a rare metabolic disorder caused by impaired purine synthesis, leading to the buildup of toxic intermediates in the brain. Affected individuals typically present with developmental delay, seizures, and progressive neurologic symptoms. Early genetic diagnosis can support clinical management and family counseling.
1 program found for Adenylosuccinate Lyase (ADSL) 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.
