NF1 چه کسانی باید از نظر نوروفیبروماتوز غربالگری شوند

ترجمه می شود   Who should be screened for NF1 چه کسانی باید از نظر نوروفیبروماتوز غربالگری شوند You should be screened for NF1 if you and/or your child have a family history of NF1 and/or multiple brown skin spots, bumps on or under the skin, and/or Lisch nodules a crooked arm or leg bone  Follow-up care will depend on the type and complexity of symptoms, and will be individualized for each person.     تا چه اندازه تست های ژنتیکی برای نوروفیبروماتوز معتبرند How reliable is genetic testing for NF1 Unfortunately, genetic testing isn’t perfect. In the vast majority of people who show two or more symptoms of NF1 – around 95 percent – genetic testing can identify a mutation. But that means that five percent of people with NF1 will nothave a mutation that is identifiable by the testing that is currently available. As a result, if your child tests negative for a NF1 mutation, there’s still a chance that she could have NF1, and should still be followed if she has at least one known symptom of the condition. Please remember that the results from genetic tests should always be discussed with your doctor or genetic counselor http://www.childrenshospital.org/conditions-and-treatments/conditions/neurofibromatosis/symptoms-and-causes