Neurogenetics
Make Appointments & Get Care
What Is Neurogenetics?
The Neurogenetics Consultation Service sees patients with a broad range of developmental disorders, including autism, brain malformations, epilepsy, and intellectual disability. The service provides professional pre-test and post-test genetic counseling, and access to the latest research for rare neurogenetic conditions.
Services we provide include:
- Evaluation and clinical care of children with genetic conditions of the nervous system
- Diagnostic genetic testing
- Genetic counseling with a board-certified genetic counselor
- Research opportunities and clinical trials for various conditions
UR Medicine's Approach
We are one of the few programs in New York State with physicians who are board certified in both child neurology and medical genetics.
Our collaborative specialty clinics include:
- Batten Disease Center
- Hereditary Ataxia Program
- Leukodystrophy Care Center
- Neurofibromatosis Program
- Pediatric Neuromuscular Clinic (DMD, SMA, Hereditary Neuropathy programs)
We see patients with a broad range of developmental disorders, including:
- Epilepsy
- Developmental/intellectual disability
- Autism
- Developmental encephalopathies
- Angelman syndrome
- Fragile X syndrome
- Chromosomal disorders
- Neurometabolic disorders
- Mitochondrial disorders
- Brain malformations
- Muscular dystrophies and myopathies
- Neurocutaneous disorders (Tuberous sclerosis, Neurofibromatosis)
- Leukodystrophies
- Ataxias
- Batten disease
What Sets Us Apart?
At UR Medicine, our genetic counselors and providers work closely with experts in a wide range of disciplines such as neurology, cardiology, nephrology, and oncology. We have Certified Genetic Counselors, Kelly Querfurth Minks, M.S. and Jordan E. Bontrager, M.S. on staff.
Because we are a major referral center for the region, we have experience working with patients with rare genetic conditions. And because we’re an academic medical center, our patients may have the opportunity to participate in clinical trials for new medications and treatments.
The Division of Pediatric Genetics at Golisano Children's Hospital provides services to newborns, children, teens, and adults who have genetic and metabolic disorders. Each year, we care for more than 1,000 patients. We strive to help patients and families understand the nature of their disorder, so that together we can manage their condition effectively.
Providers
Locations
We serve you in the Rochester metropolitan area and surrounding region.
1 location
200 East River Road
Rochester, NY 14623