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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeTPMG
Method

Common polymorphisms in the TPMT gene give rise to individuals with low or zero TPMT activity. Allele-specific PCR is used to test for the presence of the point mutations G238C (*2 allele) and A719G (*3 allele). These account for 85-90% of the inactive TPMT alleles in the general population.

Diagnostic Use / Indications

Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme which catalyses the S-methylation of thiopurine drugs. TMPT converts 6-MP to metabolites other than the thioguanine nucleotides thought to be responsible for their main cytotoxic action. Haematological side effects of thiopurines are influenced by TPMT deficiency (myelosuppression). A standard dose of thiopurine drugs in homozygous mutant individuals is likely to cause pancytopaenia and sometimes death and there is a growing body of evidence suggesting heterozygotes are also at higher risk of haematological complications (note that normal individuals still have a background risk of developing haematological complications).

Constituent TestsGenomic DNA Extraction ;
External Price$129.46(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7302

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