Whole Exome Sequencing (WES) involves sequencing the Exomes or the protein coding regions of the genome. Exomes constitute around 2% of the human genome and is the protein coding part of the genome.

WES enables a more efficient, faster and cost effective approach to discover sequence or base pair level genomic changes which affect the functioning of the genes. WES allows discovery of the variants, which may confirm the genetic basis of the disease or explain the phenotype and provide answers to diagnostic dilemmas.

In the absence of specific mutations in a well defined set of genes, a clinician may be at loss in going to the next step of the diagnostic odyssey. Ordering of smaller panels or subset of genes can turn out to be more expensive and less informative. WES using Next Generation Sequencing (NGS) allows for rapid and simultaneous scanning of a wider range of genes at a reasonable cost.

At LABASSURE, we collaborate with some of the best genomic centres in the world to pool in their expertise along with our own experience and database of genomic variations. This enables us to provide accurate, actionable and simplified reports.

Our reports are compliant with the latest guidelines of American College of Medical Genetics (ACMG) and other professional guidelines/recommendations regarding the reporting of various types of genetic variants.

Indications

  • Undiagnosed diseases such as unexplained development delay, intellectual disability, autism or any neurological disorder
  • Abnormal phenotypes with normal reports for other standard of care testing such as cytogenetics or other molecular assays
  • Normal chromosomal microarray results in pediatric patients or in fetal anomalies detected prenatally.

LABASSURE advantage:

  • Enhanced coverage (95% target bp covered > 10X at a mean coverage of 100x)
  • Reduced variants of uncertain significance
  • Extensive experience across a wide spectrum of conditions and samples
  • Clinical reporting with ABMG certified geneticist
  • Support for additional testing