Genetic testing in neurology

Here we explain patterns of inheritance and their complexities including mitochondrial disorders, and mosaicism. We also explain different types of genetic testing including presymptomatic, diagnostic and carrier testing. We provide an overview of the ethical framework of genetic testing including confidentiality and consent, genetic testing in children and genetic testing in at-risk relatives. We also describe core technologies for genetic testing including cytogenetic and molecular genetic analysis. Close liaison with clinical genetics services and medical genetics laboratories is recommended in order to stay up to date with the type, availability and appropriateness of any genetic test.