To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at support@genedx.com to determine how to proceed.

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What is Whole Exome Sequencing?

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