- Dynamic kit that updates the target genes of the panel according to scientific evidence.
- Type of mutations analyzed: SNVs, INDELs, CNVs, ALUs and other large insertions.
- Medium coverage: >350X
- Coverage: 99% of bases covered at 20X depht.
- Uniformity: 98.8% of the bases covered at >20% of the mean coverage.
- Sensitivity: > 99%
- Specificity: > 99%
- Compliant with ISO 13485 and ISO 14001 quality specifications regarding manufacturing materials.
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 iSeq, Illumina MiSeq, Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq
- 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