Genetic Sequencing

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Today there is a different scenario, in which genomic technologies can be very useful to detect genetic variations in patients with a high accuracy and an important reduction of costs, thanks to the first-generation sequencing approach. In particular, next-generation sequencing will increasingly be used for clinically heterogeneous inherited disorders, resulting in an increase in number of reported disease-causing genes

  • >99% of mappable regions of the genome are sequenced at >30X coverage
  • Pathogenic SNV detection across the entire genome
  • Mitochondrial sequencing, depletion, and deletion analysis with heteroplasmy assessment
  • Repeat expansion detection with confirmation by alternative technology
  • Turnaround time of 2-6 weeks, STAT option of <2 weeks available
  • Single nucleotide resolution copy number analysis with junction identification
  • Uni-parental disomy detection