Test Entry - Detail

NUDT-15 Genotyping


General
  Clinical Use: 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.
  Availability:
  Aliases/Synonyms: Nudix Hydrolase 15,   NUDT15,  
  Code: GHHR
  Handling Instructions (to laboratory): Send sample ambient.
  Hyperlink:
  Reference Interval:
Not Applicable


Collection Requirements
  Container: EDTA (LAVENDER),  
  Sample Type: See container
  Minimum Collection Volume: 1mL
  Collection Instructions: Do not collect sample within 7 days of patient undergoing a blood transfusion.


Processing Requirements
  Alternate Containers:
  Processing Instructions: Store sample at room temperature.
  Minimum Assay Volume:
  Stability:
  Transport Instructions (to testing laboratory): Send sample ambient.


Testing Locations
  Performed at:
Section Department Site Contact Phone
Molecular Genetics Diagnostic Genomics QEII Medical Centre 6383 4243


Last Updated : 06-06-2025 14:50