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"Will a molecular genetics consultation tell me whether my child has any genetic defects?"

ZocdocAnswersWill a molecular genetics consultation tell me whether my child has any genetic defects?


I am afraid there is something wrong with my child even though she seems like a happy, healthy normal girl. Can I have a genetics test done on her?


A genetics consultation is a doctor's visit in which a specially trained physician evaluates a patient for a possible genetic disease. While there are exceptions, in general, children do not undergo genetic testing except for one of two reasons: 1. If the child is showing signs or symptoms that have gone unexplained and could be a manifestation of a genetic disease, or 2. There is a genetic disease that a close relative(s) has and the parents want to have the child tested. Genetic testing is almost always done on one gene. This is because the testing is expensive and testing for all genetic diseases is not feasible. Therefore, a geneticist would not know what gene to test for if a child were to come in healthy and normal. I hope that explanation made sense. I should note that there are commercially available genetic testing kits out there. I highly discourage their use. They are inaccurate and can lead to great misunderstandings from the people that use them. I suggest that you schedule an appointment with your daughter's pediatrician. He or she will be able to discuss signs and symptoms of some of the more common genetic diseases, and the likelihood that your daughter has one. I think you will come away from the appointment with knowledge that will help you help your daughter stay healthy.

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