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Whole Exome Sequencing

Updated: Apr 12, 2022

What is Whole Exome Sequencing (WES)??

WES analyzes exome regions of human DNA, which contains information used to make protein.

※ Mitochondrial genome is not covered by WES

What is Exon?

Human DNA consists of two different regions called Exon and Intron. They contain information needed to make proteins, which are essential substances for us to survive.Variations in our DNA can affect the protein synthesis process and lead to development of diseases.

  • Intron

- Regions that do not code for protein.

  • Exon

- DNA sequences that code for amino acids that make up proteins.

- Majority of the DNA

  • Exome

- All the Exon within the Genome

Whole Exome Sequencing Test analyzes Exome (all exon in the human genome) to help diagnose the rare hereditary diseases

GC Genome uses "GC-MD", for its data analysis and interpretation.

GC-MD is an internally developed database that draws on over 15,000 accumulated clinical cases of rare hereditary disease diagnosis and expertise of our strong Bioinformatics Team.

WES VS DES How are they different?

DES and WES tests both use Next Generation Sequencing Technology to analyze the exons of human DNA.


DES does not cover all exon in the genome. It focuses on 5.870 genes that are highly associated with most of the known up-to-date rare hereditary diseases.

WES covers all exon in the genome (22,000 genes)

Why do we need WES test?

When testing is required for clinical diagnosis of known genetic diseases

If a genetic mutation was not found in the previous targeted genetic test

When a diagnosis of a specific disease is difficult due to various symptoms

Key Features of GC Genome's WES
  • 22,000 genes

  • SNVs + Indels [1~10 bp]

  • If PV/LPV/VUS are found in proband, a follow-up test for the first-degree relatives will be provided free of charge.

  • High Diagnostic Rate

  • Analyzed by GC-MD, in-house database of accumulated cases.

  • Next Generation Sequencing (NGS)


Download the required documents through the link below!


This test can be performed upon request from a medical doctor.

#WES#NGS#WholeExomeSequencing#Diagnostic#Rare Hereditary Disease#Diagnosis

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