The RUSH Approach to Genetic Services
Getting genetic testing or screening for you or your child is one of the best ways to gauge the risk of certain genetic diseases. If a disease or disorder is detected, our providers can develop a customized treatment plan for the best way to move forward.
Our genetic services team is compromised of providers who focus on pediatric conditions, neurology, cancer, cardiology and so much more. We also offer specialized clinics for the following:
- Cardiogenetics: At our cardiogenetic clinic, genetic specialists evaluate and counsel patients with a variety of genetic disorders that affect the heart including hyperlipidemia, cardiomyopathies, arrhythmias and inherited conditions like Marfan syndrome and Loeys-Dietz syndrome.
- Lysosomal storage disorders: We have one of the largest lysosomal storage disease programs in Illinois. We diagnose, monitor and treat both children and adults with a number of lysosomal storage disorders, including Fabry disease, Gaucher disease, Pompe disease and mucopolysaccharide disorders. We participate in a number of disease registries, as well as research protocols for the treatment and management of these disorders.
- Neurogenetics: RUSH offers specialized genetic care to patients who have neurogenetic conditions, including neuromuscular disorders, neurodegenerative disorders and others. We also have a comprehensive fragile X syndrome clinic.
During your first appointment, you'll meet with a genetic counselor and geneticist to talk about your family history, risk factors and testing options. Then, once we get the results (usually from a saliva test; not a blood test), we'll come up with a treatment plan and refer you to any specialists, if needed.
RUSH Excellence in Genetics Services
- Expert evaluation and diagnosis: Your medical history, family history and current symptoms are key to determining if you might be affected by a genetic disease. By asking the right questions and listening carefully to your story, we'll make sure we find the right treatment plan for you.
- Personalized diagnostic genetic testing for kids: We know how much you want your child to live a happy, productive life. We can give your child the best chance at success by diagnosing genetic disorders at an early age. If we know what the disease or disorder is at a young age, we can start planning for what types of treatments or specialists they'll need in the future. We can examine congenital malformations, chromosome disorders, intellectual disability and learning disabilities.
- Preparing for pregnancy: Being pregnant can be overwhelming, but one thing that might put your mind at ease is undergoing genetic testing and counseling during your pregnancy to determine if your child is at risk for a genetic disorder. Knowing beforehand will help us determine what treatments they might need in the future. Genetic screening tests also help you learn about your risk of being affected by a genetic disorder or having a baby affected by a genetic disease.
- Expert referral: We know you might have a lot of questions about the results of your genetic test. We're happy to help refer you to providers who can help, such as psychologists or someone who specializes in the disease or disorder.
