Genetics & Genomics
About Medical Genetics and Genomics
University of Iowa Stead Family Children’s Hospital is home to the only comprehensive medical genetics and genomics services in the state of Iowa. Our experienced teams contribute to the diagnosis and care of children and adults with rare genetic disorders. As a part of an academic medical institution, we are committed to the provision of services that rely on the advances in research relating to the genetic basis of human disease. We strive to provide the best, evidence-based and comprehensive health care services to Iowans.
The Division of Medical Genetics and Genomics includes an array of general and specialized medical genetics and genomics clinical services. We have a full-service and state-of-the-art cytogenetics and molecular diagnostic laboratory and a short-term follow-up service for the Iowa Newborn Screening Program, that extends to service the newborns of Alaska, and South and North Dakota. The clinical services include an outreach clinical consultation service, as well as telemedicine services.
Our 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 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) and Schwannomatosis.
The metabolic genetics clinic provides diagnosis, management, nutritional support, and education for children and adults born with inherited disorders of metabolism, along with their families. Common reasons for evaluation in metabolic genetics clinic include an abnormal newborn screen result, family history of an inherited metabolic condition, poor growth and/or development, loss of skills, or other sudden unexplained changes in 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 State of Iowa Health and Human Services Department (HHS). HHS contracts with the State Hygienic Laboratory at the University of Iowa to perform the testing component of newborn screening, and with the Stead Family Department of Pediatrics to provide follow up of newborn screening results, along with quality improvement activities and educational activities for stakeholders throughout the State of Iowa.
For more information, please visit: https://idph.iowa.gov/newborn-screening
The cancer predisposition clinic provides diagnosis and management recommendations for adult and pediatric patients affected with or at-risk for genetic cancer predisposition syndromes. Common diagnoses include APC-associated polyposis syndrome, Beckwith-Wiedemann syndrome, PTEN-hamartoma tumor syndrome, ataxia telangiectasia, Birt-Hogg-Dube syndrome, von Hippel-Lindau (VHL) syndrome, Juvenile Polyposis syndrome, SDH-related paraganglioma and pheochromocytoma syndromes, to name a few. We are a nationally recognized clinic by the VHL alliance and the Pheochromocytoma/Paraganglioma alliance.
At the University of Iowa, a multidisciplinary TSC clinic was formed in 2018. The shared clinic includes pediatric genetics (Dr. Sidhu) and genetic counseling, pediatric neurology/epilepsy (Dr. Ciliberto), and pediatric nephrology (Dr. Harshman). The purpose of this clinic is to provide coordinated, comprehensive care in parallel with guidelines from the TSC Alliance.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder effecting 1 in 5000-10000 live births. TSC is known for the potential to cause severe neurologic manifestations such as intellectual and learning disabilities, epilepsy, and hydrocephalus. However, TSC is a multi-system disorder that can affect most organ systems including the skin, kidneys, lungs, and heart.
Because this disease has such a broad range of signs and symptoms, across the country, it has become the standard of care for academic institutions to develop multidisciplinary clinics for patients with this disease to provide comprehensive care in an efficient, caring, and multigenerational manner. Often, multiple family members are affected and benefit from comprehensive, family-centered care in a focused clinic.
This quarterly clinic currently serves approximately 50 pediatric patients with TSC. For questions about this clinic or information on how to refer a patient for comprehensive TSC care, please contact 319-356-8427 or email [email protected].
Your Visit
- Medical records from current doctors
- Records of related imaging studies
- Records of related laboratory studies
- 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 Health Care.
Patient Stories
Awards and Recognition
