Genetics and Inborn Errors of Metabolism

The Division of Genetics at Stony Brook University Medical Center is an academically based division providing a comprehensive array of clinical services within the discipline of medical genetics. The division also is engaged in a diversity of educational and research pursuits.

A wide range of clinical services are available including diagnostic genetic evaluations of children and adults who have birth defects, mental retardation, chromosome disorders, dysmorphic syndromes, craniofacial disorders, skeletal dysplasia, neurofibromatosis, neurologic disorders, autism, cancer predisposition, cardiogenetic syndromes, high risk pregnancies, preimplantation genetic diagnosis, genetic counseling and other genetic disorders.

Members of the Genetics Division are actively engaged in research activities to improve and better understand inherited metabolic disorders and have a New York State Grant to improve the delivery of Genetic Services on Long Island.

The Inherited Metabolic Disorder Clinic has been designated as a Center of Excellence by the National Society of Inherited Metabolic Disorders.  It is one of only eight designated Metabolic Centers in New York State and the only such center located on Long Island.