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Genetic testing is now an integral part of most areas of medicine, but especially neurological services. This article seeks to provide clinicians with an overview of the complex mechanisms and ethical dilemmas that can arise in the care of families with a confirmed or suspected genetic condition. As genetics moves more into the mainstream, it is increasingly important for non-geneticists to have an awareness of how to approach these patients, the potential pitfalls and when to seek specialist advice. 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. © 2012 Elsevier Ltd. All rights reserved.

Original publication




Journal article


Medicine (United Kingdom)

Publication Date





463 - 467