Hereditary Plus OncoKitDx

Hereditary Plus OncoKitDx uses a technology of library preparation by enzymatic fragmentation and enrichment of the regions of interest by hybridization with capture probes. Subsequently, massive sequencing is carried out on Illumina platforms.

• Compatible sequencers: Illumina MiSeq, NextSeq 500/550Dx System
• Number of reactions: 48
• Number of samples per run: Illumina MiSeq V2 (300 cycles): 16
  Illumina Next Seq 500/550 Mid Output (300 cycles): 32
• Sequencing: Paired-end (2 x 150 cycles)
• DNA quantity per sample: 50-100 ng
• Genomic region analyzed: 0.47 Mb
• Target genes (complete sequencing and CNVs): ABRAXAS1 (FAM175A), ACD, AIP, AKT1, ALK, APC (incl. 5’ UTR), ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CHEK2, CTNNA1, CYLD, DICER1, EPCAM (incl. 3’ UTR), FANCC, FANCG, FANCM, FH, FLCN, GALNT12, GALNT14, GDNF, GEN1, GREM1, HABP2, HOXB13, KIF1B, KLLN, LZTR1, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1 and XRCC2.
• Extra CNVs regions: EPCAM (3’ UTR) and MSH2 (5’ UTR)
• 50 Gene Hotspots: APC, ATM, ATR, BRCA1, BRCA2, CHEK2, FH, LZTR1, MET, MLH1, MSH2, NF1, PMS2, PTEN, RB1, RET, SDHB, STK11 and TERT
• Sample type: DNA from peripheral blood or saliva