Genetic testing is increasingly important for investigating suspected inherited neurological conditions. A genetic diagnosis can have a huge impact on patients and also their families. It is important for neurologists to appreciate the presymptomatic and prenatal testing options available to patients and their at-risk relatives once a genetic disorder is diagnosed. Asymptomatic family members can experience considerable psychological distress from the knowledge that they might have inherited a neurodegenerative condition. They may also be concerned about the risk of their children inheriting the condition. Information on reproductive options can provide hope and reassurance. This paper reviews the principles of genetic testing in neurological practice, and how they can be applied in prenatal and preimplantation genetic diagnosis. We explain the basis for direct and exclusion testing, use case examples to illustrate the process by which families are counselled and discuss the ethical implications of reproductive technologies.
Keywords: direct and exclusion testing; genetic testing; pre-implantation genetic diagnosis; pre-symptomatic testing; prenatal testing.
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