Genetics & Metabolism

The Division of Genetics provides genetic evaluation across pediatric, adult, cancer, and cardiovascular genetics for patients and families with known or suspected inherited conditions. 

Services Include:

• Genetics evaluation for people of all ages 
• Cancer genetics evaluation 
• Evaluation of individuals and families with known or suspected hereditary conditions

Areas of Focus:

• Birth defects and dysmorphic features 
• Developmental delay and intellectual disability 
• Autism spectrum disorder 
• Hypotonia and seizures 
• Hearing loss or deafness 
• Abnormal growth and failure to thrive 
• Hereditary kidney and ocular disorders 
• Connective tissue disorders, including Marfan and Ehlers-Danlos syndromes 
• Adult-onset neurologic conditions 
• Hereditary cancer syndromes and familial cancer risk 
• Cardiomyopathies and inherited arrhythmias 
• Familial aortic aneurysms and dissections 
• Familial hypercholesterolemia 

Contact Information:

Phone: 716.323.0040
Fax: 716.323.0292