WHOLE EXOME SEQUENCING WITH MITOCHONDRIAL SPIKE-IN

WHOLE EXOME SEQUENCING WITH MITOCHONDRIAL SPIKE-IN

  • WES enables comprehensive coverage of exons to target medically relevant genomics regions, including known disease-associated sites and untranslated regions (UTRs). Interrogation of the human mitochondrial genome by targeted Next-Generation Sequencing (NGS) can help analyze mtDNA variants contributing to mitochondrial disorders including incidences of heteroplasmy.
  • Eliminates the need to sequence the entire genome, offering a cost-effective alternative to WGS.
  • Can be applied to wide range of sample types ie blood, DBS, FFPE, cfDNA making it versatile for both research and clinical applications

Present test covers:

  • ➤99% of the protein-coding regions (~23000 genes) covering all major gene databases such as 100% ACMG73, 98% CCDS, 100% ClinVar, 98% gencode & ref Seq variants along with intron-exon boundaries.
  • ➤Pharmacogenomics (PGx) SNPs from PharmGKB, Pharm Var, CPIC databases
  • ➤Extended TERT promoter and enhancer regions
  • ➤UTR & intronic region for Clinvar IDs
  • ➤CNV calling
  • ➤Mitochondrial genome of 16.7 Kb covering around 37 genes of the mitochondrial genome.
  • ➤Covers 100% of genes relevant to OMIM known disorders and 87% of ClinVar database.
  • ➤Phenotype driven variant analysis, classification & interpretation using validated software.
  • ➤Variant review & classification as per ACMG guidelines
  • ➤Cost effective & quality-controlled processes from sample processing up to analysis & interpretation