Neurogenetics Clinic

Genetic counseling and testing play an important role in the diagnosis and management of various neurological diseases including neuromuscular, movement, neurocutaneous, neurovascular, and neurodegenerative disorders as well as epilepsy, and leukodystrophies.   The Neurogenetics Clinic in the Department of Neurology at Wayne State University-Detroit Medical Center provides clinical evaluation, genetic counseling, and genetic testing for a wide variety of genetic disorders to offer valuable insights into which therapies that might be able to provide disease control.

The Neurogenetics Clinic provides genetic assessments that can offer a clearer understanding of what is driving these disorders and  help to identify other family members who might be also at risk.  The genetic assessment is most beneficial for these patients who are already diagnosed with one of the above conditions and who have at least one of the following: i) Family history of the neurological disorder, ii) Ongoing symptoms that did not respond to medications, iii) Additional comorbidities such as developmental delay, autism spectrum disorder, systematic disorders including the heart, kidneys, skin, and bone.

In addition to patient care, the Neurogenetics clinic also serves to try to identify the causes of genetic disorders for which the underlying cause is not known or recently identified. We network with other neurogenetics researchers around the world to assist in research studies that we hope will identify the causes of disorders that are not currently well understood.   

Counseling and testing for asymptomatic individuals at-risk for adult onset of such inherited disorders is available. This includes extensive counseling to make sure that a patient has made a careful decision and is prepared to cope with the results and all their implications. We can also facilitate referrals for those interested in reproductive testing options.

The neurogenetics clinic appointment will be with the genetic counselor and the supervising neurologist.    There is often no single test that can diagnose these different types of neurological disorders, and multiple tests might be needed.    The genetic tests are typically performed on blood or saliva samples and might include: i) The neurological disorder specific gene panel to analyze the most common genes involved, ii) Targeted specific gene testing in conditions where there is suspected or known genetic cause, iii) A chromosome microarray analysis, iv) Whole exome or genome sequencing to look for a larger number of potentially affected genes .

Referring a patient to the Neurogenetics clinic for a genetic evaluation will require providing the following information:

-Referring provider’s information

-Patient information

-Suspected diagnosis

-Previous genetic testing if available

-EEGs, EMGs, NCSs, Neuroimaging test results

-Relevant previous clinic notes

Neurogenetics Clinic Counseling Referral Form

For more informaton, please contact: