LAMP Human TPMT Deficiency KIT
The LAMP Human TPMT deficiency KIT is an in vitro diagnostic test intended for the qualitative detection of three different TPMT alleles (*3B, *3C, *2) by Loop-mediated isothermal amplification (LAMP) on EDTA whole blood and extracted DNA.
This assay is dedicated to professional use in diagnostic laboratories. The device is not for self-testing.
Regulatory Status: CE-IVD
Format: 24 reactions
Target gene: TPMT (Thiopurine S-methyltransferase)
Drug relevance: Thiopurines - azathioprine, 6-mercaptopurine, 6-thioguanine (reduced TPMT activity → risk of severe myelosuppression)
Variants detected: TPMT*2 (rs1800462), TPMT*3B (rs1800460), TPMT*3C (rs1142345)
Method: LAMP + meting curve analysis
Sample: EDTA whole blood - no DNA extraction required - or extracted DNA
Compatible instruments: LightCycler 480 I&II / Cobas z 480 (Roche); CFX96 / CFX Opus 96 (Bio-Rad); QuantStudio 1/3/5 & 6/7 Flex (Applied Biosystems); MIC qPCR (Bio Molecular Systems); LC-Genie III & Genie HT (Optigene)
Software / result interpretation: Automated genotype calling via GeneFox software; mandatory visual confirmation of the melting curve
Turn around time: < 1h
General information
Advantages
The assay allows the detection of TPMT*3B, TPMT*3C and TPMT*2 alleles in a very short time.
The genotyping is performed by melting curve analysis after amplification, using a specific probe and quencher for each target SNP. During the melting curve analysis, the temperature is gradually increased while the change in fluorescence emission is measured. The probe will detach differently from amplified wild type DNA fragments and mutated DNA fragments, therefore, the change in fluorescence will be observed at a different temperature, allowing to make the difference between homozygous mutated, heterozygous mutated or wild type. The three polymorphisms are detected using three different reaction buffers in three separate reactions..
Test principle
The TPMT gene encodes for the enzyme thiopurine S-methyltransferase, which is involved in reactions for breaking down thiopurine drugs, like 6-thioguanine, 6-mercaptopurine and azathioprine. These drugs are used to treat several forms of cancers or disorders involving the immune system, as they suppress the body’s immune system. These drugs are also used to reduce rejection of transplanted organs. The enzyme thiopurine S-methyltransferase performs the S-methylation of aromatic and heterocyclic sulphydryl compounds. This enzyme metabolizes the drugs into inactive compounds.
A TPMT deficiency is a reduction in the activity of the tpmt enzyme, which leads to the longer presence of the drugs in the body, leading to severe side effects from thiopurine therapy, such as suppression of the bone marrow, leading to reduced number of red and white blood cells and platelets.
There are multiple nonfunctional TPMT alleles, of which the most common are described underneath.
Background information
Compatible instruments & Related kits
You have a question regarding our products ? You want to know more about our method ?
Find out about our other expertises
