Lesch-Nyhan syndrome or HGPRT deficiency.
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) has a central role in the generation of purine nucleotides through the purine salvage pathway. HGPRT (EC 220.127.116.11), catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. A deficiency is associated with Lesch-Nyhan disease (OMIM 300322).
Whole EDTA blood
- Test material: Erythrocytes isolated from whole blood.
- Conditions: room temperature.
- Specifics: 2-5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
- Test material: Erythrocytes.
- Conditions: Dry ice.
- Specifics: 200 µl packed erythrocytes from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80 °C and subsequently shipped on dry ice. Do not use PBS for preparation of packed erytrocytes but use 0.9% NaCl. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.