Medical Genetics Services Areas of special expertise include the diagnosis and management of: 22q11.2 deletion syndrome (e.g., DiGeorge or velocardiofacial syndrome) Autism/developmental evaluation Chromosomal problems Down syndrome Genetic counseling Inherited disorders of connective tissue Inherited hearing loss Metabolic newborn screening evaluation Neurogenetics Prader-Willi syndrome Connecticut Children’s genetics specialists perform and interpret specialized genetic testing for a range of problems, and provide up-to-date information about the cause, heritability and management of genetic conditions.
