Test Directory
Browse our comprehensive catalog of genetic tests
Thiopurine methyltransferase (TPMT)
To detect a thiopurine methyltransferase (TPMT) deficiency and determine your risk of developing severe side effects if treated with the class of immune-suppressing thiopurine drugs that includes azathioprine, mercaptopurine, and thioguanine
PharmacogeneticsTPMT (*2/*3A/*3B/*3C) and NUDT15 (*2.*3/*4/*6/*9)
This pharmacogenetic test analyzes the TPMT and NUDT15 genes to assess your patient's risk of severe toxicity before starting thiopurine medications (such as azathioprine, mercaptopurine, or thioguanine). These drugs are commonly used to treat inflammatory bowel disease (IBD), certain autoimmune conditions, and some blood cancers.
PharmacogeneticsAlpha - Thalassaemia - Trio (Mother/Father/Prenatal) - MLPA reflexed to Sanger Sequencing
This comprehensive prenatal test evaluates the HBA1 and HBA2 genes in a trio setting, analysing parental and prenatal samples simultaneously to accurately determine the inheritance of thalassaemia-associated variants. Initial testing is performed using Multiplex Ligation-dependent Probe Amplification (MLPA) to detect common and rare deletions or duplications associated with alpha- and beta-thalassaemia. Where clinically indicated, samples are reflexed to Sanger sequencing for the detection and confirmation of sequence variants not identifiable by MLPA. This combined approach enables the identification of both copy number and sequence-level alterations, providing a comprehensive assessment of fetal risk and supporting prenatal diagnosis and genetic counselling for families at risk of thalassaemia.
Prenatal & Reproductive