UCSD Biochemical Genetics

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego
 
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Test: APRT (Adenine Phosphoribosyltransferase)
Comments:The diagnosis of APRT deficiency (2,8-dihydroxyadeniine nephrolithiasis) depends on the assay of APRT. Our assay is radiochemical, and we also measure Hypoxanthine-Guanine Phosphoribosyl Transferase as an internal control. It is helpful to have a clinical history of the patient provided.
Specimen type:Bloodspots
Sample Requirements:Blood Spots, PKU card (Guthrie Card Filter Paper) fill at least 3 spots, allow to air dry for >4 hours. Mail in envelope at room temperature.
Turnaround time:10 working days.

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