Choose Test:
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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.
Note(July, 2022): Due to problems procuring substrates recently, we anticipate a 3 month delay while we validate a new method. Bloodspots should remain stable during this time. Call if you need alternate arrangements.
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| 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: | 1 month.
Note, July, 2024: 3 month delay to validate new method. |
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