Genetic Services

We provide genetic services for all ages for a wide range of known or suspected genetic conditions.  A genetics evaluation may include a detailed family and medical history, thorough physical exam, genetic testing, discussion of possible diagnoses and discussion of management options. Families may be seen to establish a new diagnosis, ongoing follow up care, or prior to starting a family to better understand risks. Telehealth services are available for many appointment types.

Genetics services may benefit those with:

• Known or suspected genetic conditions, such as Marfan syndrome, neurofibromatosis and polycystic kidney disease
• Developmental delays, intellectual disabilities, seizures or autism spectrum disorders
• Unexplained vision or hearing loss
• Multiple unexplained physical problems, birth defects or unusual features
• Adult-onset genetic conditions, such as hemochromatosis, neurodegenerative disorders like Huntington disease and certain cardiomyopathies or arrhythmias
• A family history that raises concern about a genetic condition