TPMT Mutation Detection Kit, is a molecular diagnostic analysis based kit developed to investigate c.238G>C / c.460G>A / c.719A>G variants in the DNA molecules isolated from blood or tissue. To investigate these variants, a single nucleotide sequencing method is used and the test is performed by a PCR reaction that is realized in two tubes.


TPMT Mutation Detection Kit, is a fast, low-cost and reliable test through which c.238G>C / c.460G>A / c.719A>G variants in TPMT gene are investigated by a single nucleotide sequence method. TPMT Mutation Detection Kit is used for identifying patients at risk for toxicity from Thiopurine drugs, determining the necessity to adjust drug dosage and selecting alternative therapy.



TPMT Mutation Detection with Single Nucleotide Sequencing

Thiopurine drugs such as azotioprin (AZA), 6-merkaptopurine (6-MP) and 6-thioguanine (6-TG) are widely used in treatment of Acute Lymphoblastic Leucemia (ALL), autoimmune diseases, inflammatory bowel disease and posttransplant organ treatment. In the patients with high thipurine methyltransferase enzyme activity due to genetic factors and/or drug-drug interaction, there is a high risk of toxicity when thiopurine drugs are administered. TPMT enzyme deficiency is an autosomal dominant disease.

Molecular genetic basis of TPMT polymorphism is not well known. To date, more than 10 allelic variants of TPMT has reported. In the patients with a decrease in TPMT activity, three main TPMT variants (TPMT-3A, TPMT-3B, TPMT-3C) are observed. These variant alleles caused by point mutations on exons or mutations on intron-exon boundaries.


Additional information


Number of Tests 50 reactions
Main Material DNA
Transportation Conditions With dry ice and cold chain
Storage -20°C
Sequenc Type Single Nucleotide Sequencing
Kit Content TPMT PCR Mix-I, TPMT PCR Mix-II, TPMT Primer Mix-I, TPMT Primer Mix-II