Genetic Services Provided

Children’s genetics team members are nationally regarded experts in the diagnosis, evaluation and treatment of genetic conditions. Services include:

• Diagnosis and evaluation
• Clinical management of inherited disorders
• Connections to community resources and support groups
• Coordination of appointments with pediatric subspecialists
• Enzyme replacement therapy, which helps manage symptoms of lysosomal storage diseases (such as Pompe disease; Gaucher disease; Fabry disease; MPS I, also known as Hurler syndrome, Hurler Scheie syndrome, or Scheie syndrome; MPS II, also known as Hunter syndrome; and MPS VI, also known as Maroteaux Lamy syndrome)
• Genetic counseling, which provides information on rare disorders, inheritance patterns, and recurrence risks
• Genetic testing
• Written care summaries provided to primary care providers and other physicians involved in your child’s care

Multidisciplinary clinics, which provide concentrated, coordinated services, include:

• Neurocutaneous clinic
• Down syndrome clinic
• Cystic fibrosis screening
• Craniofacial clinic
• Genetic cardiology clinic
• Velocardiofacial syndrome clinic

Contact Us

• If you are a family member and want to make an appointment, call Children’s genetics clinic at (612) 813-7240. Clinic hours are Monday through Friday from 8:00 a.m. – 4:30 p.m.
• If you are a health professional looking for a consultation or referral information, please call Children's genetics clinic at (612) 813-7240 or Children’s Physician Access at 1-866-755-2121 (toll-free). Consultation is available 24 hours per day, seven days per week.