Sponsored diagnostic testing programs for Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a rare inherited lipid metabolism disorder caused by variants in the CYP27A1 gene, leading to accumulation of cholestanol in the brain and other tissues. Affected individuals may develop juvenile cataracts, chronic diarrhea, tendon xanthomas, and progressive neurologic symptoms. Genetic testing confirms the diagnosis and supports timely treatment and counseling.
1 program found for Cerebrotendinous Xanthomatosis
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.
