- 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
- Coverage: 99.5% of the bases covered at a depth of 50X.
- Uniformity: 99.2% of the bases covered at> 20% of the mean coverage and 90.0% of the bases covered at> 50% of the mean coverage.
- Sensitivity:> 99.9%
- Specificity:> 99.9%
- It complies with the quality requirements specified by ISO 13845 and ISO 14001 regarding the materials used in its manufacturing process.
Hereditary OncoKitDx employs a library preparation technology by enzymatic fragmentation and the enrichment of the regions of interest by hybridization with capture probes. Subsequently, the 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 Micro (300 cycles): 12|
Illumina Miseq V2 (300 cycles): 48
|Sequencing:||Paired-end (2 x 150)|
|Amount of DNA per sample||20-26 ng|
|Size of regions of interest||184 Kb|
|Target genes||50 genes: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FAM175A(ABRAXAS1), FH, KIF1B, MAX, MEN1, MET, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, VHL, XRCC2|
|Type of sample||Blood or saliva|