HPRT, HPGRT, APRT
UCSD Biochemical Genetics
3-5 Blood Spots
Blood Spot Card
Fill 3-5 spots, allow to air dry for 4 hours after collection.
5 Blood Spots
3 Blood Spots
Complete UCSD Biochemical Genetics requistion and submit with specimen room temp.
The diagnosis of Lesch-Nyhan syndrom and variant forms depends on the assay of HPRT. The assay is radiochemical, and also measure Adenine Phosphoribosyl Transferase as an internal control. It is helpful to have a clinical history of the patient provided.