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Diagnostics Exome Sequencing(DES)

Updated: Apr 12, 2022

Hereditary rare diseases can take a long time to diagnose and sometimes be undetectable, so it can be difficult to determine the progress of the disease and take appropriate treatment. DES test provides the genetic information of causing genes related to Mendelian genetic disorders by using next-generation sequencing (NGS)

What is DES test?

DES test analyzes 5,870 genes that cause known genetic diseases at once and can be the help of treatment decisions and patient prognosis by quick diagnosis.

GC Genome provides a follow-up test for first-degree relative free of charge for PV/LPV/VUS found in the proband’s DES test. It can help with genetic counseling for disease and family planning.

In particular, DES test is a flagship service of GC Genome where we have full experience in genetic diagnosis more than 15,000 cases and in-house database called “GC-MD” developed by skilled bioinformaticians for the accurate interpretation.

Why DES test is essential?

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

DES – Key features
  • 5,870 genes + Mitochondrial DNA

  • SNVs + Indels [1~10 bp]

  • High diagnostic rate

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

  • 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.


#Diagnostics Exome Seqeuncing™ test#DES#NGS#Rare Disease#Mendelian genetic disorders#GC Genome flagship service

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