Genetic testing in child neurology

Jodie M Vento; Johanna L Schmidt

doi:10.1016/j.spen.2012.09.003

Genetic testing in child neurology

Semin Pediatr Neurol. 2012 Dec;19(4):167-72. doi: 10.1016/j.spen.2012.09.003.

Authors

Jodie M Vento¹, Johanna L Schmidt

Affiliation

¹ Division of Child Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. Jodie.Vento@chp.edu

PMID: 23245549
DOI: 10.1016/j.spen.2012.09.003

Abstract

Integration of genetic and genomic information into the clinical practice of child neurologists is revolutionizing how diagnosis, prognosis, and treatment of neurogenetic diseases are approached. Genetic testing technology, informatics, and interpretation are rapidly expanding. High-throughput next-generation sequencing has changed the landscape of many fields of medicine by enabling new diagnoses and gene/disease associations. Now more than ever, a comprehensive understanding of the risks, benefits, limitations, and nuances of testing in the pediatric population is essential for the child neurologist.

MeSH terms

Central Nervous System Diseases / genetics*
Child
Genetic Testing / methods
Genetic Testing / standards*
Humans
Molecular Diagnostic Techniques / methods*
Neurology / standards*
Risk Assessment