Sponsored diagnostic testing programs for Alpha-Methylacyl-CoA Racemase (AMACR) Deficiency
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare metabolic disorder that impairs the breakdown of certain fatty acids and bile acid intermediates. Affected individuals may develop neuropathy, liver dysfunction, vision problems, or developmental concerns. Genetic testing confirms the diagnosis and supports appropriate management and counseling.
1 program found for Alpha-Methylacyl-CoA Racemase (AMACR) 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.
