Neurogenetic conditions may present at any time during life and are typically very debilitating and chronic and may be degenerative and life threatening. The function and development of the nervous system is complex and involves the coordinated expression of many genes. Disruption of these processes due to gene mutations have a variety of clinical presentations which may affect cognitive and motor functions.
Some inherited neurogenetic disease is considered ‘simple’ in that a single gene or a single causative DNA variant (mutation) results in either abnormal development or function of the nervous system. This group includes conditions such as Huntington disease, Spinal Muscular Atrophy, the muscular dystrophies, Fragile X and some forms of epilepsy. Other neurogenetic conditions are considered ‘complex’ because multiple gene variations and environmental factors determine the onset and progression of the condition. These disorders include Intellectual or developmental delay, Alzheimer’s and Parkinson’s diseases.
Genetic testing for conditions with a major inherited component is useful for confirming or excluding a clinical diagnosis, for gene carrier testing and predictive testing, and for family planning options.
Genomic Diagnostics currently offers both genomic testing by microarray for the investigation of intellectual disability, autism, and developmental delay, as well as single gene testing for genes associated with brain development, and genes associated with normal function of the synapse, which can be associated with conditions such as epilepsy.