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Genetics, counseling and testing

Genetics is the study of the patterns of inheritance—how traits and characteristics are passed from parents to their children. When a gene is abnormal, or when entire chromosomes are missing or duplicated, defects in the structure or function of the body's organs or systems can occur. These mutations or abnormalities can result in disorders, such as cystic fibrosis, a recessive genetic disease, or Down syndrome, a condition that occurs when a baby receives three copies of the No. 21 chromosome. Learn more.

Genetics plays a role in many areas of health. Legacy offers genetic testing and counseling in many areas.

Genetics testing in pregnancy

You may choose to have a screening test to assess your baby's risk for a problem. Screening tests can generally be performed with no risk to a pregnancy. Legacy Medical Group–Maternal Fetal Medicine offers screening tests that include ultrasound, blood tests and an examination of your personal and family history.

Genetics and metabolism for children

The Pediatric Genetics and Metabolic Program at Randall Children's Hospital at Legacy Emanuel provides evaluation and consultative services to families with children who may have genetic conditions or metabolic alteration that affect their growth or development.



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