Genetic testing in the field of neurology is becoming increasingly beneficial.
Perhaps the most significant changes during the past 10 years have occurred in genetic testing and diagnostic imaging. Much has been learned from sequencing the human genome (the complete set of a person’s genes) and developing new technologies that detect genetic mutations. Improved imaging techniques provide high-resolution images that allow physicians to view the structure of the brain. Specialized imaging methods can visualize changes in brain activity or the amounts of particular brain chemicals. Scientists continue to improve these methods to provide more detailed diagnostic information.
Researchers and physicians use a variety of diagnostic imaging techniques and chemical and metabolic tests to detect, manage, and treat neurological disease. Many tests can be performed in a physician’s office or at an outpatient testing facility, with little if any risk to the person. Some procedures are performed in specialized settings to determine particular disorders or abnormalities. Depending on the type of test, results may be immediate or may take time to process.
Some of the Genetic Disorders (Neurogenetics) that can be found include:
- Ataxia including spinocerebellar ataxias, olivopontocerebellar atrophies, and multiple system degeneration.
- CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy)
- Charcot-Marie-Tooth disease (hereditary neuropathy)