Genetics

About Genetics

Many health conditions are caused by a person’s genetic makeup. These include abnormalities in genes that occur randomly. Others may be the result of environmental exposure. Genetic conditions may affect only one member of a family, or they may result in inherited conditions that affect several family members.

University of Iowa Stead Family Children’s Hospital is home to the only comprehensive genetics program in Iowa. Our experienced team evaluates and manages many complex inherited conditions and coordinates care for children and adults. As part of an academic medical center, we provide the most advanced information and treatment options through collaboration with state and federal agencies, researchers, educators, and support groups.

Genetic disorders affect families as well as individuals. For this reason, we provide the information, support, and follow-up you need to make informed decisions about your care or the care of family members. In addition, we work to coordinate care with your local providers. We also provide care through several community locations throughout Iowa. In some cases, we offer telemedicine services at these locations.

Services

The general genetics clinic provides diagnostic evaluation, testing, counseling, and ongoing management for patients with known or suspected genetic conditions. Common reasons to be seen in this clinic include birth defects, learning or behavior concerns, problems with growth, family history of known genetic conditions, or concerns about a specific genetic condition.

The connective tissue disorders clinic provides diagnostic evaluation, testing, counseling, and ongoing management for children and adults with disorders affecting structural connective tissues. These include disorders of the skin, ligaments, tendons, and blood vessels. Common conditions seen in this clinic include Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, and thoracic aortic aneurysm syndrome.

The neurofibromatosis (NF) clinic is a nationally affiliated member of the NF Clinic Network through the Children’s Tumor Foundation. The clinic provides diagnosis and medical management to patients of all ages. We also offer access to a multidisciplinary care team and specialists as needed. Primary conditions include neurofibromatosis types 1 and 2 (NF1 and NF2), Noonan Syndrome, Schwannomatosis, tuberous sclerosis, and Von-Hippel Lindau syndrome.

The metabolic genetics clinic provides diagnosis, education, medical treatment, management, and nutritional support for children and adults born with inherited disorders of metabolism. These conditions affect how the body makes or uses energy from foods. Common reasons for evaluation in this clinic include abnormal newborn screening, family history of a metabolic condition, poor growth or development, loss of skills, and unexplained changes to health status.

The Shivanand R. Patil Cytogenetics and Molecular Laboratory is a nationally accredited laboratory that performs several high complexity genomic scale clinical tests to help in the diagnosis, prognosis, and treatment of developmental and neoplastic disease in children.

The Iowa Newborn Screening Program is administered by the Iowa Department of Public Health (IDPH) in collaboration with the State Hygienic Laboratory at the University of Iowa to test every baby born in Iowa for more than 25 metabolic disorders. All babies born in Iowa receive blood spot newborn screening, hearing screening, and screening for critical congenital heart disease (pulse oximetry). For more information, visit IDPH Center for Congenital and Inherited Disorders program page. 

Your Visit

Before your appointment, please make sure you have:

• Medical records from current doctors
• Records of related imaging studies
• Records of related laboratory studies

Your evaluation will include:

• Blood sample (most common approach for genetic testing)
• Comprehensive family history
• Diagnostic work-up for rare and inherited conditions
• Education and counseling, if needed
• Medical history
• Physical exam

In some cases, we may need to collect samples of urine or skin cells. Once we establish a diagnosis, we will design a personalized medical management plan. This may include coordinating care with providers in your local area. We also coordinate care with providers within UI Stead Family Children’s Hospital and University of Iowa Hospitals and Clinics.