HIGH PROFILE TESTS - WHOLE EXOME SEQUENCING (WES)

 

​​​Whole exome sequencing (WES) is the sequencing and analysis of all the exons in a patient’s genome (termed exome) to identify disease-causing variants in genes, which explain the patient’s disease.
 

Whole exome sequencing is an effective diagnostic tool, particularly in non-specific or heterogeneous phenotypes and is recommended as a first line diagnostic test in all cases without a clear differential diagnosis.

We particularly recommend WES for patients with:

  1. A complex, heterogeneous phenotype with unknown etiology
  2. A long list of differential diagnosis
     
  3. Non-specific or atypical presentations
     
  4. Multiple, negative or uninformative genetic tests
     

The exome includes all coding regions of the genes (the exons) present in the genome comprising ~1% of the entire genome. This includes around 200,000 exons in ~ 21,000 genes. About 85% of all disease-causing variants in Mendelian disorders are present in exons.

Specimen Type: Blood in EDTA tubes or Dry Filter Cards​​
 

TAT: 30 Days
 

For more information about the test, please call 17237325 or 17237309 or 17237303​​