Sequences the complete coding region of the genome. It is designed to examine all the coding regions and splice junctions of the genome. This method can be used to identify variations in the protein-coding region of any gene, rather than in only a select few genes. Because most than whole genome sequencing. known disease causing mutations occur in exons, whole exome sequencing can be used more effectively

Can be considered for certain patients where the combination of symptoms does not allow an exact diagnosis/phenotype of suspected genetic disease.

Situations where delayed differential diagnosis may have a significant impact on the patient’s quality of life.

In certain cases where a stepwise diagnostic strategy often substantially increases costs and time
Physician cannot provide any plausible diagnosis from the symptoms 5. Where there is no other alternate technique to confirm the diagnosis and to end the diagnostic odyssey