Neurogenetics and Risk Assessment
Genetic counseling can help you understand whether inherited risk may play a role in neurologic symptoms or conditions affecting you or your family.
About neurogenetics at Main Line Health
Some neurologic conditions and diseases of the nervous system may be influenced by genes passed down through families. Genetic counseling can help you better understand whether an inherited condition may be contributing to symptoms or diagnoses affecting you or your loved ones.
At Main Line Health, genetic counselors in King of Prussia, Wynnewood and Riddle, PA, work closely with neurologists and other specialists to assess hereditary risk, discuss genetic testing options and help guide informed health care decisions. Whether you have a diagnosed neurologic condition or unexplained symptoms identified by your neurologist, genetic counseling may provide helpful information about your health, your family's risk and your future care.
Who we help
You may want to consider meeting with a genetic counselor if you have a family history of:
- Alzheimer's disease and other dementias
- Ataxia, including:
- Ataxia-telangiectasia
- Friedreich's ataxia
- Spinocerebellar ataxia
- Charcot-Marie-Tooth disease
- Epilepsy or seizures without a known cause
- Frontotemporal dementia (FTD)
- Hemiplegic migraine
- Inherited prion diseases
- Amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig's disease
- Muscular dystrophy
- Myotonic dystrophy
- Parkinson's disease spectrum disorders, including:
- Dementia with Lewy bodies
- Parkinsonism
- Spinal muscular atrophy (SMA)
You may also benefit from genetic counseling if you have neurologic symptoms without a known cause, including:
- Neuropathy
- Progressive muscle weakness
- Myotonia
- Seizures
How we help
Neurogenetic counseling may help you and your neurologist:
- Confirm a suspected neurologic diagnosis
- Better understand the possible cause of neurologic symptoms
- Identify inherited risks that may affect family members
- Make informed decisions about genetic testing and treatment
- Learn about available management and surveillance options
- Explore research studies or clinical trial opportunities, when appropriate
- Access supportive resources for ongoing care
What to expect
During your neurogenetics and risk assessment consultation, you’ll meet with a genetic counselor who can help assess your personalized risk and determine whether neurogenetic testing may be appropriate.
Your initial appointment may include:
- Review of your medical and family history – A discussion of your personal health history and family history helps your genetic counselor better understand your possible inherited neurological risks.
- Tailored risk assessment – Your genetic counselor will evaluate genetic, environmental and lifestyle factors that may contribute to neurologic conditions.
- Discussion of genetic testing options – You will learn more about available genetic testing through blood or mouth swab options, including the benefits and limitations of testing and what the results could mean for you and your family.
- Genetic testing coordination – If genetic testing is appropriate, your genetic counselor can help you collect a cheek swab during this appointment or order testing, including blood draws, for the same day or a later date.
What happens next
After your initial neurogenetic appointment, results from your test can take between two and eight weeks to be ready for review.
At a follow up appointment, your genetic counselor will review any recommended next steps with you, which may include:
- Guidance on care and management – Based on your history and results, we’ll review available management and surveillance strategies, and, when appropriate, research opportunities for you to review in more detail with your clinician.
- Support and resources – We’ll provide you with educational materials, as well as support and other resources to help you and your family navigate your diagnosis or risk.
- Connections to additional specialists – If needed, we will connect you with board-certified neurologists to help you treat your inherited neurological condition.
Get started
Typically, a doctor's referral is not necessary to schedule genetic counseling, however, confirm with your specific insurance first. Pre-authorization may be required for insurance to pay for the genetics lab test but is not required if you self-pay. Your genetic counselor can help you navigate the process.
To learn more about neurogenetics or to schedule a genetic counseling appointment, call 484.565.GENE (4363).
What is neurogenetics?
Neurogenetics is a type of genetics focused on the nervous system and one of several genetics services offered at Main Line Health.
Do I need to have a neurologic condition to meet with a genetic counselor?
No, a current diagnosis is not required. However, genetic counseling may be helpful if you have a diagnosed neurologic condition, unexplained neurologic symptoms or a family history of certain neurologic conditions.
Do you offer genetic testing for Huntingtons disease?
We may offer genetic testing for people who already have a clinical diagnosis of Huntington's disease. For people seeking predictive testing because of a family history of HD, we recommend specialized Huntington's disease testing programs that provide the additional counseling, education and support recommended before and after testing.
Can neurogenetic counseling help my family members?
Yes. If a neurologic condition is inherited, neurogenetic counseling can help you understand what that may mean for your family members and whether they may want to consider counseling or testing.
What if my neurologic symptoms do not have a known cause?
Neurogenetic counseling may still be helpful. A genetic counselor can review your symptoms, personal history and family history to determine whether genetic testing may be an option to help you get more information about your condition.
Can my child get neurogenetic testing through Main Line Health?
Our program is an adult neurogenetics program. If you want genetic testing for a child or adolescent under 18 years of age, discuss it with your pediatrician.
Can you do genetic testing for autism?
At this time, Main Line Health refers people who want genetic testing for autism to specialized medical genetics programs. Because autism spectrum disorder, developmental delays or intellectual disabilities may be associated with other clinical findings, an evaluation conducted by a specialized medical geneticist can help determine whether genetic testing is appropriate and which tests may be most helpful.