Whole Exome Sequencing (WES) is a comprehensive test for all of the coding regions and splice sites of the genome where the most disease causing mutation happens. By this test, the protein-coding region of any gene can be tested rather than testing specific proteins related to one or few genes.

When should you do the Whole Exome test?

• If you suffer from cataract, keratoconus, fuchs endothelial corneal dystrophy, Age-related macular degeneration, Glaucoma, pseudoexfoliation syndrome and Diabetic retinopathy, or if you have a symptoms combination that does not allow for an exact diagnosis.
• When the delay in the classical diagnosis might be a threatening for life quality of the patients.
• To save cost and time.
• If the symptoms are ambiguous.
• When the WES is the only solution to get the right diagnosis.

 Who should do Whole Exome Test?

• Undiagnosed genetic disease Patient
• Who has heterogeneous phenotypes:

-Intellectual disability with developmental delay

-Cardiomyopathy and Epilepsy and Undiagnosed metabolic disorder and Immunodeficiency

-Ataxia and Neuropathy and Deafness

-Bone and connective tissue disorders; Short stature and Complex dysmorphic features

By WET, you can identify the inherited variants and mutations (recessive or dominant mutations) from the parents causing the various diseases. Moreover, WET can identify de novo variants which happen in the children without any genetic basis from the parents.