. Author manuscript; available in PMC: 2017 Sep 1.

Published in final edited form as: Expert Rev Mol Diagn. 2016 Aug 17;16(9):987–999. doi: 10.1080/14737159.2016.1209411

Table 1.

Pediatric Exome Sequencing Diagnostic Yield Based on Indication

Indication	Diagnostic Yield
Inherited cancer⁵³	10%
Somatic cancer⁵³	47%^*
Neurologic disorder⁴⁰	27.2%
Specific neurologic disorder⁴⁰	36.1%
Neurologic and organ-system disorder⁴⁰	24.6%
Hearing disorder⁴¹	55.0%
Vision disorder⁴¹	47%
Skeletal muscle disorder⁴¹	40%
Skeletal disorder⁴¹	39%
Multiple congenital anomalies⁴¹	36%
Cardiovascular system⁴¹	28%

Half of the reported mutations had potential clinical utility

See references 40, 41, and 53 for more details