The neurological disorders presented here encompass a wide range of disorders and symptoms, all related to the central nervous system and brain function. Symptoms that may occur during the course of the disorder include malfunction of the motor system, voluntary and involuntary movement, cognitive function and memory impairment. Many disorders present themselves in childhood such as subtypes of Ataxia and Epilepsies, while others show increased prevalence with age and are related to the progressive degeneration of brain function, such as Alzheimer‘s disease. Some diseases can be caused by single gene defects, while others are more complex. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for neurological disorders. The test can offer a molecular genetic diagnosis of a neurological disorder that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member show a symptom of a neurological disorder, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You had unexplained seizures
You feel numbness
in your feet and/or hands
You or a family member
show memory loss
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.