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NGS panel for detection of variants (SNV, InDel, CNV) in 41 genes incl. star alleles of the CYP2D6 gene, which are significant from the point of view of pharmacogenomics. Mutations in these genes affect the metabolism of important drugs, which can lead to poor response to treatment or serious side effects.
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: ABCB1, ABCC2, ABCC4, ABCG2, ACE, ADRB1, ADRB2, BCHE, CDA, COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD2, G6PD, HTR2A, ITPA, MTHFR, NAT2, NR1I2, NR1I3, NUDT15, OPRM1, P2RY12, POR, RYR1, SLC22A1, SLCO1B1, TPMT, TYMS, UGT1A1, UGT1A4, UGT2B7, VKORC1
For more information, please contact us by e-mail: diagnostika@pentagen.cz