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Devyser CFTR NGS is a genetic test enabling the detection of SNV, InDel and CNV variants in the coding regions and exon-intron junctions of the CFTR gene. It also includes the detection of poly-T and TG repeats in intron 9, intron mutations in introns 7, 11, 12, 22 and the promoter.
Library preparation is based on amplicon sequencing. Two multiplex PCRs in one reaction mixture are followed by library pooling and purification without the need for individual library quantification and normalization, which together with the "single-tube" approach allows minimizing the risk of sample mix-up, cross-contamination and manual work time (<45 min)
The product is compatible with Illumina instruments and is CE-IVD certified.
For evaluation, it is possible to use AmpliconSuite (SmartSeq), SOPHiA DDM (SOPHIA Genetics) or JSI (SeqPilot).
For more information, please contact us by e-mail: diagnostika@pentagen.cz