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NGS panel for the detection of somatic mutations (SNV, InDel) in 42 genes and 137 gene fusions associated with different types of solid tumors (lung, colorectal, brain, skin).
The product also enables the detection of microsatellite instability using 6 MSI markers.
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.
List of genes involved: AKT1 (3), ALK (21-25), BRAF (11,15), CDK4 (2), CDKN2A (1*,2,3), CTNNB1 (3), DDR2 (17), DICER1 (24,25), EGFR (18-21), ERBB2 (8,17,20), ERBB4 (10,12), FBXW7 (7-11), FGFR1 (12,14), FGFR2 (7,12,14), FGFR3 (7,9,14,16), FOXL2 (1*), GNA11 (4,5), GNAQ (4,5), GNAS (8), H3F3A (2*), H3F3B (2*), HIST1H3B (1), HRAS (2-4), IDH1 (4), IDH2 (4), KIT (8-11,13,17,18), KRAS (2-4), MAP2K1 (2,3), MET (2,14-20), MYOD1 (1), NRAS (2-4), PDGFRA (12,14,18), PIK3CA (2*,3,6*,8,10,21), PTPN11 (3), RAC1 (3), RAF1 (7,10,12,13*,14*,15*), RET (11,13,15,16), ROS1 (38*,41*), SF3B1 (15-17), SMAD4 (8-12), TERT (promoter*,1*,8*,9*,13*), TP53 (2-11)
For more information, please contact us by e-mail: diagnostika@pentagen.cz