UCSD Biochemical Genetics

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego
 
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Test: HPRT (Hypoxanthine-Guanine Phosphoribosyltransferase)
Comments:The diagnosis of Lesch-Nyhan syndrome and variant forms depends on the assay of HPRT. Our assay is radiochemical, and we also measure Adenine 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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