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Hidden Genes

What is carrier testing?


Some inherited conditions result from genes that are hidden in the family.  Genes are made up of DNA and are passed from one generation to the next in a family. Genes determine how the body grows, develops, and functions. Sometimes there is a difference, or a mistake, in a gene which causes the gene to not work. Some inherited conditions happen because a person has only non-working copies of the gene. These are called recessive conditions. A person with one working copy and one non-working copy of a particular gene is called a carrier. If both a mom and a dad have a non-working copy of a gene, there is a 1 in 4 chance that a child could inherit two non-working copies of the genes and therefore have the condition.


Who should have carrier testing?


Some people think that as long as they don’t have any family history of birth defects or inherited disease, their children won’t either. Unfortunately, even healthy parents with healthy families can have children with recessive conditions.  A type of genetic test called carrier testing is available for people planning to start a family.


Which carrier test is best?


Labs now offer different forms of carrier testing. Some of these tests include over 250 different conditions. Others are focused on a small number of diseases based on the person’s ethnic background or even on a specific disease that runs in a family. The Pregnancy Planning DNA Navigator from Mainstream Genomics is a starting place for parents-to-be to assess the health of their families and decide whether carrier testing is right for them.


How do parents-to-be get carrier testing?


There are a few options for ordering carrier testing.  A physician can order carrier testing. Some laboratories also allow people to order carrier testing online by connecting them to physicians online. Many of these online services include an optional but free conversation with a certified and licensed genetic counselor, who is trained to interpret genetic testing.  Some carrier testing is available to people without a doctor’s order, but the FDA does not advise using them for medical purposes. These tests can be fun but may not include the same diseases as physician-ordered tests. They also may miss some carriers that the physician-ordered tests would find.


Does insurance cover carrier testing?


Some insurance policies will cover carrier testing. Some policies will only cover carrier testing during pregnancy, but a woman or couple has fewer options at that time.  Others will only cover carrier testing for a condition that is known in the family or recommended by medical associations for certain ethnic groups.


How much do carrier tests cost?


Some labs offer carrier testing for $250 for the woman and $100 for her partner . The cost billed to an insurance company can vary.





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