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Genetic Disorders

Mutations or problematic changes in your DNA can cause genetic disorders. Proper diagnosis, preventive measures and treatment can help manage symptoms and prevent complications. This allows people with a variety of genetic conditions to live productive, full lives.

Some gene mutations are passed down from parents. Other times, a genetic condition can happen spontaneously to one individual in a family. In some cases, lifestyle and environmental factors can cause mutations, leading to an acquired genetic disorder.

Common types of genetic disorders

  • Single-gene disorders (e.g., sickle cell anemia) are caused by mutations in just one gene.
  • Chromosomal disorders (e.g. Down syndrome) are due to having missing or extra chromosomes or chromosomes with structural changes. 
  • Complex disorders (e.g., hereditary colon cancer) can result from one or more genes with a mutation, in addition to the effects of lifestyle and environment.

Common genetic disorders

Genetic tests

The benefits of genetic testing include the following:

  • Accurately diagnosing a person who has symptoms of a genetic disease.
  • Revealing genetic diseases in adults and children before they cause any symptoms, allowing for preventive maintenance and care.
  • Helping doctors decide the best course of treatment for specific genetic diseases.
  • Identifying a genetic disease during pregnancy.
  • Determining if parents might be gene carriers for a disease that could affect their children.

How can I get help for genetic disorders?

If your primary care physician, OB-GYN or pediatrician is concerned about a genetic disorder for you or your child, genetics specialists at Rush can help. 

Care for genetic disorders at Rush

  • Expert evaluation and diagnosis: Your doctors at Rush will incorporate your medical history, family history and current symptoms to properly determine if you might be affected by a genetic disease.
  • Diagnostic genetic testing: Genetics specialists at Rush use genetic tests to diagnose children and adults with genetic disorders, including congenital malformations, chromosome disorders, intellectual disability and learning disabilities.
  • Prenatal genetic testing: You can undergo genetic testing and counseling during your pregnancy to determine if your child is at risk for a genetic disorder.
  • Genetic screening tests: Screening tests allow you to learn about your risk of being affected by a genetic disease or of having a baby affected by a genetic disease. 
  • Genetic counseling: Genetic counselors at Rush will help you understand your family history, the cause and inheritance of genetic disorders that may affect your family and navigate the genetic testing process.
  • Expert referral: Your doctors at Rush will refer you to providers who offer comprehensive treatment, including psychological care, educational support and additional therapies.

Why choose Rush for genetic disorders care

Departments and programs that treat this condition