UCSD Biochemical Genetics

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego
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Test: Succinylpurine Screen
Comments:Succinylpurine products (succinylAICAriboside [sAICAr] and succinyladenosine [sAdo]) are elevated in the body fluids of patients with deficiency of adenylosuccinate lyase, a disorder which can present with mental retardation, seizures and autistic features. We use tandem mass spectrometry to detect sAICAr and sAdo and report qualitative results, identifying samples with elevated amounts or with abnormal ratios. This method is not subject to the false positives which complicate Bratton-Marshall screening.
Specimen type:Urine
Sample Requirements:Urine, 10-20 mL (min 2) frozen and shipped on dry ice.
Turnaround time:2-8 weeks.