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
- Celiac disease
- Cystic fibrosis
- Down syndrome
- Fragile X syndrome
- Hereditary breast cancer
- Hereditary colon cancer (e.g., famililal adenomatous polyposis or FAP)
- Huntington’s disease
- Muscular dystrophy
- Neurofibromatosis type 1 and neurofibromatosis type 2
- Sickle cell anemia
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?
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
- Specialists in genetics at Rush work with people of all ages for genetic and congenital disorders. Rush provides a full range of diagnostic services and counseling — including support for those worried they are at risk.
- The Rush Inherited Susceptibility to Cancer Clinic and the Sandra Rosenberg Registry for Hereditary and Familial Colon Cancer offer genetic testing and counseling for inherited cancers.