SALSA MLPA Probemix P283 TPMT detects copy number variations in the TPMT gene.
Contents: 22 MLPA probes, including 10 probes for TPMT of which 1 detects the wild-type sequence of the c.719A>G mutation, and probes for TPMT c.460G>A and c.238G>C.
Tissue: human genomic DNA.
Application: research on thiopurine S-methyltransferase (TPMT) deficiency.
For research use only (RUO). Not for use in diagnostics.
SALSA MLPA Probemix P283 TPMT is a research use only (RUO) assay for the detection of deletions or duplications in the TPMT gene, which is associated with thiopurine S-methyltransferase deficiency (TPMT deficiency). This probemix can also be used to detect the presence of the c.460G>A/p.A154T (TPMT*3B allele), c.719A>G/p.Y240C (TPMT*3C allele), or both (TPMT*3A allele), and the c.238G>C/p.A80P (TPMT*2 allele) point mutations.
Defects in the thiopurine S-methyltransferase (TPMT) gene are the cause of TPMT deficiency. TPMT is an enzyme involved in the normal metabolic inactivation of thiopurine drugs. These drugs are generally used as immunosuppressant or cytotoxic drugs and are prescribed for a variety of clinical conditions including leukaemia, autoimmune disease, and organ transplantation. Patients with intermediate or no TPMT activity are at risk of toxicity after receiving standard doses of thiopurine drugs and it is shown that inter-individual differences in response to these drugs are largely determined by genetic variation at the TPMT locus.
SALSA MLPA Probemix P283 TPMT is for research use only (RUO) in all territories.
SALSA Binning DNA SD087 is an artificial DNA sample with a signal for all probes in the P283 TPMT probemix. Inclusion of a reaction with SD087 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.
A vial of SALSA Binning DNA SD087 is included with every order of the P283 TPMT probemix, but it is possible to order additional vials separately.
For more information, see the product description.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
A vial is included with every order of this probemix, but additional vials can also be purchased separately.
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.