Great question! Please explore our Whole Exome Sequencing and Pediatric Neurodevelopmental Disorders pages to find out more about Exome testing or read more below.

Exome sequencing targets the protein-coding regions, called exons, of the approximately 20,000 genes in the genome. It is a powerful diagnostic tool, providing a definitive diagnosis in 20-50% of patients.^[1-2]

Exome sequencing can be used to identify the molecular basis of a genetic disorder in individuals:

• With a genetically heterogeneous disease as pathogenic findings could be present in many different genes
• With a long list of differential diagnoses
• With an atypical presentation of a genetic disorder
• Who have exhausted other currently available genetic testing options
• Who have suspected tissue-specific mosaicism

References:
1. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England journal of medicine. 2013;369(16):1502-1511. doi:10.1056/NEJMoa1306555

2. Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genetics in Medicine. 2015;18(7):696-704. doi:10.1038/gim.2015.148