1 in every 100 children is born with a genetic disease, usually to parents with no family history of the disease. World Health Organization, Human Genetics Program
For couples who are expecting or considering pregnancy, we offer genetic carrier screening. There are many types of genetic diseases. Some of these diseases are termed recessive, meaning that a person has to have two copies of an abnormal gene in order to show symptoms of the disease. If a person has only one copy of an abnormal gene, they are asymptomatic but are considered a “carrier” for the disease. When two parents are carriers for the same genetic disease their children have a 1 in 4 chance of having that disease. The screening we offer through Counsyl tests to see if you and/or your partner are carriers for any of the several more common recessive genetic diseases. Some of the more common diseases included in the screen are cystic fibrosis, sickle cell anemia, spinal muscular atrophy, and Tay-Sachs.
For more information, please visit the Counsyl website http://www.counsyl.com or speak with your physician.