Choose Test:
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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: | 1 month. |
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