Neurogenetics Consultation Service

The Neurogenetics Consultation Service at URMC 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. We are one of the few programs in New York State with physicians board certified in both child neurology and medical genetics.

Services we provide

• Evaluation and clinical care of children with genetic conditions of the nervous system
• Diagnostic genetic testing
• Genetic counseling with certified genetic counselors
• Research opportunities and clinical trials for various conditions

Multiple collaborative specialty clinics

• Pediatric neuromuscular clinic
• Leukodystrophy care center
• Hereditary ataxia program
•  Batten Disease center
• Neurofibromatosis program

Diagnosis and care for patients suspected to have or diagnosed with:

• 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

Our Team

Alex Paciorkowski, M.D.
Clinic/Service Director
Neurogeneticist

David Bearden, M.D.
Neurogeneticist

Bo Hoon Lee, MD
Neurogeneticist

Kelly Querfurth Minks, MS, CGC
Certified Genetic Counselor

Jordan Bontrager, MS
Certified Genetic Counselor

Carolyn Dickinson, RN, MS, CPNP-PC
Child Neurology Nurse Practitioner

Referrals should come to CHILD NEUROLOGY and specify NEUROGENETICS
585-275-2808 (phone)
585-275-3683 (fax)

Clinic location: 200 East River Road