As one of the largest pediatric genetics enterprises in the world, we have decades of experience with both common and very rare genetic conditions. We specialize in finding answers for complex and hard-to-diagnose genetic conditions, often applying new technologies through our research labs when existing genetic tests are negative or inconclusive.

Genetics Services >

Learn about the multitude of clinical genetics services available at our Division, and how to schedule an appointment.

Specialty Genetics Clinics >

Here you will find a roster of our specialty disease clinics with contact information and links.

Genetic Therapies >

Recent advances are beginning to open the door to correcting some genetic disorders through drugs, gene therapy, gene editing and other genetic interventions. We are working with scientists and disease specialists around the hospital to develop such treatments.

Diagnostics and Genetic Counseling >

We offer a range of genetic tests, for single or multiple genes, chromosomal studies, and whole-exome sequencing.Genetic counselors work closely with families and the geneticist to interpret and advise on treatment options and to coordinate care.

Clinical Trials >

We often invite our patients to participate in research studies to help us understand the genetics and basic biology of disease. The Clinical Trial Finder is a search tool for patients and families to help them identify potentially suitable trials.