The General Genetics Consultation Service at UConn Health diagnoses and manages genetic disorders in children and adults. Our board-certified medical geneticists and genetic counselors provide highly personalized care.

Individuals referred to our service for evaluation may include children or adults with the following:

• Personal or family history of a known (or suspected) genetic condition or chromosomal disorder
• Birth defects or multiple congenital anomalies
• Intellectual disability, autism, delays in learning and development, or suspected neurodevelopmental disorder
• Seizures with no known cause
• Unusual growth pattern (overgrowth, failure to thrive, short stature, etc.)

Areas of expertise include the diagnosis and management of chromosomal disorders such as Down syndrome, 22q11.2 deletion syndrome (also known as DiGeorge or velocardiofacial syndrome), and Prader-Willi syndrome, the majority of inherited disorders of connective tissue and inherited hearing loss.

We offer comprehensive genetic evaluation, testing, and counseling to aid in the identification and diagnosis of individuals with inherited or de novo (newly present) genetic conditions. Obtaining a molecular diagnosis allows us to offer up-to-date information on personalized treatment and management options, prognosis, expected clinical course, and availability of research opportunities or clinical trials. We can also discuss how genetic information may impact other family members by providing information on inheritance and recurrence risks.

Psychosocial counseling is an important aspect of our service. We aim to help individuals understand and come to terms with their complex genetic information. In many cases, we can offer resources to families and condition-specific family support.

Individuals or families with genetic concerns or health care providers caring for these individuals are invited to contact us with questions or to make an appointment.

To be seen in our clinic, we ask for a referral from a physician to be faxed to our office, along with any relevant clinical documentation, genetic test reports, growth charts (if applicable), and family history information.