TPMT, NUDT15 and Pharmacogenetics: Tailoring treatments through genetic diagnostics
What is pharmacogenetics and why is it essential in diagnostic laboratories?
Pharmacogenetics enables the customization of medical treatments based on a patient's genetic profile. Thanks to cutting-edge genetic diagnostic solutions, laboratories can identify genetic variations that influence drug response, especially to thiopurines, widely used in oncology, immunology, and transplant medicine.
Why should TPMT and NUDT15 deficiencies be tested before prescribing thiopurines?
Thiopurines such as azathioprine, mercaptopurine, and thioguanine are prescribed for certain autoimmune diseases and cancers. However, in some patients, TPMT (thiopurine methyltransferase) or NUDT15 enzyme deficiencies can lead to severe, even life-threatening, myelosuppression.
These deficiencies impair the breakdown of active drug metabolites, significantly increasing the risk of toxicity. Pharmacogenetic testing enables clinicians to adjust the dosage accordingly or select alternative treatments.
What is the difference between TPMT and NUDT15 deficiency?
- TPMT deficiency is the most common genetic cause of thiopurine intolerance among European and African populations.
- NUDT15 deficiency is more frequently observed in Asian and Hispanic populations.
In both cases, pre-treatment genetic screening helps prevent severe complications and ensures safe, personalized treatment.
What diagnostic solutions are available to detect these genetic deficiencies?
LAMP Human TPMT Deficiency KIT
This in vitro diagnostic test enables the qualitative detection of the three most common TPMT gene variants (*2, *3B, *3C) using LAMP (Loop-mediated isothermal amplification) technology on EDTA whole blood or extracted DNA.
- For professional use in diagnostic laboratories only
- Not intended for self-testing
- Detects over 90% of low TPMT activity phenotypes
- Enables targeted prevention of severe myelosuppression cases
LAMP Human NUDT15 Deficiency KIT
This test qualitatively detects three NUDT15 gene variants (*3, *6, *9) using LAMP technology on EDTA whole blood or extracted DNA.
- For professional laboratory use
- Not intended for self-testing
- Identifies high-risk profiles for thiopurine toxicity at standard doses
These two tests are complementary and together provide a comprehensive assessment of genetic risk prior to initiating thiopurine therapy.
In conclusion
Integrating TPMT and NUDT15 testing into diagnostic laboratories marks a major step forward toward precision medicine. Thanks to reliable and rapid LAMP technology, professionals have access to essential tools for guiding thiopurine treatments and safeguarding patient health every step of the way.