Whole Exome Sequencing

Test Code
SLS166001
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What is Whole Exome Sequencing (WES)?

Whole Exome Sequencing (WES) is a comprehensive genetic test that rapidly and reliably identifies causative or medically relevant DNA changes in a patient. By examining the exome, which includes all protein-coding regions of the genome, WES provides the necessary coverage for accurate patient diagnoses.

Genes Covered/No of Genes: Whole Exome; 70-100x coverage

Comprehensive genetic analysis:

  • WES is a comprehensive genetic test that analyzes the exome, which represents the protein-coding regions of the genome
  • It rapidly and reliably identifies causative or medically relevant DNA changes
  • It offers broad coverage to facilitate accurate patient diagnoses

Who is WES for?

  • Undiagnosed genetic disorders: Individuals with suspected genetic disorders where standard genetic testing has been inconclusive; patients with complex clinical presentations that suggest a genetic etiology
  • Neurological and developmental disorders: Individuals with intellectual disability, developmental delays, autism spectrum disorders, or other neurological conditions
  • Rare diseases: Patients with rare or undiagnosed diseases where a genetic cause is suspected
  • Family history of genetic disorders: Individuals with a strong family history of genetic disorders, especially when the specific gene is unknown
  • Prenatal diagnosis: In cases where fetal anomalies are detected by ultrasound and a genetic cause is suspected
  • Identification of de novo mutations: Cases where a new genetic mutation is suspected
Methodology:NGS

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