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NGS panel for the detection of somatic mutations (SNV, InDel, CNV) in 23 genes and clonality for the characterization of the most relevant genomic and immunogenetic biomarkers in chronic lymphocytic leukemia.
Library preparation is based on hybridization capture technology.
The kit is validated for Illumina NGS sequencers.
The solution also includes the unique SOPHiA DDM software for secondary and tertiary analysis of the resulting NGS data and IgCaller software to detect somatic hypermutation status and V(D)J- recombination.
List of covered genes: ATF1, ATM, BCL2, BIRC3, BTK‡ (15), CDK4, CUL4A (1-5), CXCR4 (2), DLEU1, EGR2, FBXW7, KLF5, KRAS,
MYD88, NFKBIE, NOTCH1 (34), PLCG2 (19,20,24), POT1, PROZ, RB1, SF3B1 (14-16,18), TP53, XPO1 (15,16) + IGH rearrangement
For more information, please contact us by e-mail: diagnostika@pentagen.cz