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Dr. Elizabeth A. Thiele

Elizabeth A. Thiele, MD, PhD

Dr. Elizabeth Thiele: DNA mutational analysis for tuberous sclerosis is now available clinically, but we really urge people to not send the test unless there's a pretty good suspicion that a child or adult does have tuberous sclerosis, or if they do meet clinical criteria. The genetics of TSC are very, very difficult. And finding a disease causing mutation is very, very difficult. And it can be often times misleading. So we view that as confirmatory, not diagnostic. To diagnose TSC, it's still a clinical diagnosis based on specific criteria of things that we see very, very frequently and we consider highly specific to TSC. Meaning, they happen all the time in people with TSC and not very often in people who don't have TSC. And then if we do believe a person does have it, we find the DNA test to identify the mutation is helpful. It's helpful to help other family members decide if they also have TS or not, without going through very complicated clinical evaluations. And it's also important for the individual with TS, because knowing the mutation is knowledge and it's important to have the knowledge, particularly if I was a young adult with TSC, thinking about family planning, knowing that mutation would make prenatal testing and considerations like that possible.