title: Genetic testing in child neurology.
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.
authors.affiliation: Division of Child Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. Jodie.Vento@chp.edu
authors.forename: Jodie M
authors.initials: JM
authors.lastname: Vento
authors.forename: Johanna L
authors.initials: JL
authors.lastname: Schmidt
mesh_terms: D002493:Central Nervous System Diseases / Q000235:genetics*; D002648:Child; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009462:Neurology / Q000592:standards*; D018570:Risk Assessment