- 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 bases covered at a depth of 50X.
- Uniformity: 99.2% of the bases covered at >20% of the average coverage and 90.0% of the bases covered at >50% of the average coverage.
- Sensitivity: > 99.9%
- Specificity: > 99.9%
- It complies with the quality requirements specified by ISO 13845 and ISO 14001 in relation to the materials used in its manufacturing process.
- For in vitro diagnostic use.
Description
NGS sequencing of 50 genes associated with hereditary cancer predisposition
Format
48 rxn (Dilución)
Technology
NGS
Reference
IMG-316
Compatible equipment
Illumina platforms
Hereditary OncoKitDx employs library preparation technology by enzymatic fragmentation and enrichment of 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 Micro (300 ciclos): 12
Illumina Miseq V2 (300 ciclos): 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 |
Related kits
Hereditary OncoKitDx
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