Inherited CardioKitDx

Study of genetic alterations related to cardiomyopathies, arrhythmias (channelopathies), and sudden death

16 rxn

NGS sequencing


Libraries preparation: Magnis NGS Prep System (Agilent); Sequencing: NextSeq 550 System

  • Dynamic kit that updates the target genes of the panel according to scientific evidence.
  • SNV and indel analysis in genes with full exonic regions and intronic regions of interest, as well as CNV analysis
  • Analysis software included
  • STIDs can be included: Integrated sample identification and tracking system.
  • Coverage: 99.8% of bases covered at 30X minimum depth.
  • Uniformity: 99.1% of bases covered at >20% mean coverage.
  • Sensitivity: > 99.9%.
  • Specificity: > 99%.
  • Repetibilidad: > 99.9%.
  • Reproducibilidad: >99.9%.
  • It complies with the quality requirements specified by ISO 13485 and ISO 14001 in relation to the materials used in its manufacturing process.

Inherited CardioKitDx employs a fully automated technology for library preparation and selection of regions of interest by hybridization with capture probes. Subsequently, massive sequencing is carried out on Illumina platforms.

  • Compatible sequencers: NextSeq 500/550 and NextSeq2000
  • Number of reactions: 16
  • Number of samples per run: Mid Output v2.5 kit (150 cycles): 16 samples
  • Sequencing: Paired-end (2×75 cycles).
  • Amount of input DNA: 200 ng.
  • Genomic region analyzed: 1.86 Mb
  • Sample type: DNA from peripheral blood

Inherited CardioKitDx

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