Clinical Exome Sequencing

Clinical exome sequencing is when the parts of the genome are sequenced that already have a clinical association with disease.

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

Why Clinical Exome Sequencing

  • Providing overall better-targeted coverage.
  • Greater library complexity.
  • Higher target enrichment efficiency.
  • Significantly higher library uniformity than the rest.

Covers disease-associated genes that are curated from the leading 5 databases

  • CCDS
  • Ensembl
  • ClinVar
  • RefSeq