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Whole Genome Sequencing (WGS)

Analyses the entire genome covering not only the coding regions but also the non-coding regions which detect the non-coding variants, like intergenic and intronic pathogenic variants.

Features of our test

  • Single nucleotide variants (SNVs)
  • Insertions and deletions (Indels)
  • Structural variants (SVs)
  • Copy number variants (CNVs)
  • Repeat expansions
  • Mitochondrial DNA (mtDNA) variants
  • Paralogs

Sample Requirement

  • Blood
  • Swabs
  • FFPE Tissue
  • DNA Samples
SNP Discovery in Illumina
SV Discovery on PacBio

PacBio HiFi reads let you accurately detect all types of variants, from single nucleotide to structural variants, with high precision and recall and phase haplotypes, even in hard-to-sequence regions of the genome.

Why should you choose us

  • Accurate results with broader and deeper coverage.
  • Admiringly accurate identification of SNVs and small insertion and deletion (Indel) >99.7%.
  • Enhancing the sensitivity for the diagnosis of patients.

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