Conventional genetic diagnostics of neurodevelopmental disorders (NDDs) yield a diagnosis in only around half of patients. Using rapid whole-genome sequencing (WGS), Soden et al. were able to successfully diagnose 11 out of 15 infants with acute onset of NDD symptoms soon after birth. The result suggests that rapid WGS is a cost-effective strategy to evaluate infants with a suspected NDD. Whole-exome sequencing was reported to be cost-effective in children whose symptoms manifested later.
References
Soden, S. E. et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci. Trans. Med. 6, 256ra168 (2014)
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Symptom acuity can aid selection of genotyping technique. Nat Rev Neurol 11, 4 (2015). https://doi.org/10.1038/nrneurol.2014.246
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DOI: https://doi.org/10.1038/nrneurol.2014.246
