Mutations
Mutations are random changes in DNA that can be caused by errors that occur during cell division or by exposure to environmental agents such as ultraviolet (UV) radiation, carcinogens, and other toxic chemicals.
Because the DNA markers we test are located in “non-coding” regions of the DNA, the mutations we find during our tests do not have any implications on the health or well-being of our patients. They may, however, complicate the results of our tests. In fact, mutations cause an unexpected result in about 2% of the cases we test.
During DNA testing, when we encounter a mutation that produces an unexpected result, we perform additional testing and extended statistical analysis to ensure that the test result is accurate. We routinely examine 16 DNA markers in our family relationship testing, but when we detect a mutation, we can perform extended testing. Performing extended testing and analysis helps prevent the possibility of reporting a false exclusion.
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