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A simple and rapid diagnostic test for the detection of SNV, InDel and CNV germline mutations in 10 genes associated with colorectal cancer. Library preparation is based on amplicon sequencing and also includes long-range PCR for distinguishing PMS2 gene variants and PMS2CL pseudogene.
Results can be evaluated using AmpliconSuite (SmartSeq) and SexNext (JSI).
The kit is validated for Illumina NGS sequencers.
List of genes involved: MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, POLE, POLD1, CTNNB1
A simple online tool can be used to make the most of the cartridge capacity: https://calculator.devyser.com/
For more information, please contact us by e-mail: diagnostika@pentagen.cz