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General
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Clinical Use:
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Loss of function alleles in the NUDT15 gene reduce the degradation of active thiopurine metabolites and cause increased risk of thiopurine medication related toxicity, including severe bone marrow suppression (myelosuppression). This test is available to identify individuals at increased risk of adverse drug toxicity with thiopurine treatments. Specialist referrals are accepted in the context of thiopurine treatment of patients with a high-risk heritage (including Asian and Latino population background) and with acute lymphoblastic leukaemia, or with immunosuppression in the context of autoimmune disease or organ transplantation. Referrals are also accepted for patients who have received thiopurine therapy and experienced unusually severe toxicity (with a previous normal TPMT level) when received from a WA based tertiary public hospital. Requests from private referrers, General Practitioners and out of state requests cannot be processed. |
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Availability:
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Aliases/Synonyms:
| Nudix Hydrolase 15, NUDT15, |
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Code:
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GHHR |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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1mL |
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Collection Instructions:
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Do not collect sample within 7 days of patient undergoing a blood transfusion. |
Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature. |
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Minimum Assay Volume:
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Stability:
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular Genetics |
Diagnostic Genomics |
QEII Medical Centre |
6383 4243 |
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Last Updated : 06-06-2025 14:50 |