Carrier screening is a testing method that helps to determine if either parent carries a mutation in a gene for an inherited disorder that could be passed on to their child or children. The genetic conditions in carrier screening tests are usually autosomal recessive, meaning that both parents need to be carriers of the gene mutation in order for the child to be at risk. Insight’s carrier screening testing panel looks at 165 genes associated with more than 160 genetic disorders that have been selected based on their impact on quality of life and/or life expectancy.
Who Should Consider Carrier Screening
Relatives with hereditary genetic conditions may increase your or your partner’s likelihood of carrying a mutation, and certain disorders are tied to specific ethnic groups. Consequently, it is important to be informed about your personal and family health history before meeting with your genetic counselor. However, due to the randomness of genetic mutations, genetic syndromes usually occur in families with no previous history. In fact, 80% of children born with genetic diseases have no family history of the condition. It takes laboratory testing to fully determine the chance of being a carrier for any particular gene mutation. Because genetic carrier screening tests the parents’ blood, the test only needs to be performed once as the results will not change for a future pregnancy.
What to Expect
A simple blood draw of the mother is all that is needed to perform carrier screening. If the mother comes back as a positive carrier for one or more genetic conditions, we will then test the father for those conditions specifically (this is known as reflex testing).
Other Genetic Carrier Screening Options
In addition to Insight’s genetic carrier screening panel, there are other testing options available to expectant couples that can identify if either parent is a carrier of an autosomal dominant gene mutation. Chromosome testing (also called a karyotype) is not indicated for all couples, but may be specified if there is a personal or family history of multiple miscarriages, a translocation present in the family, or family members with particular types of chromosome conditions or intellectual disabilities. Moreover, if there are known autosomal recessive conditions or autosomal dominant conditions in the family, we can perform specific testing.