Neurogenetics Consultations are available to patients with a neurological condition with a suspected genetic cause.
The Neurogenetics Consultation Service aims to provide a genetic diagnosis to adult patients with a suspected neurogenetic condition.
- Comprehensive diagnostic evaluation by a neurologist with expertise in the relevant sub-specialty of neurology and genetics.
- Genetic counseling by a board-certified genetic counselor
- Genetic testing, either through a commercial laboratory, a research protocol, or in many cases, both
Identification of a genetic etiology may benefit patients in the following ways:
- Allows for targeted treatment and/or improved medical management
- Allows for appropriate genetic counseling for the patient and their family. In some cases, this may allow for screening and management of at-risk family members
- Avoids unnecessary diagnostic testing. Ends the “diagnostic odyssey” that patients with undiagnosed conditions often face
- Allows for enrollment into gene-specific clinical trials and research trials