Current Covid Health and Safety Guidelines. What is Legius Syndrome? Legius syndrome was discovered in the past several years. It is characterized by having multiple cafe-au-lait spots, and sometime skin fold freckles, indistinguishable from those that occur in NF1. It is not associated with tumors such as neurofibromas, optic gliomas, or malignant peripheral nerve sheath tumors. A clinical diagnosis is the most common way doctors diagnose NF1. A doctor will diagnose NF1 if your child has two or more of the following:.
Genetic testing can find mutations changes in the NF1 gene. It is done by taking a blood sample. The NF1 gene can be analyzed to see if the person has a normal or a changed copy of the gene. Genetic testing can be very useful, but results are not always clear. There are three possible test results: positive, negative and inconclusive. A positive test result confirms NF1.
If the test is positive, your child has NF1. This means a mutation was found in your child's NF1 gene. A positive test result cannot tell you how severe the disease will be. Members of the same family who have the same mutation may have different symptoms. A negative test result does not rule out NF1. So even with a negative test result, a child may still be treated for NF1 or assumed to have "probable NF1. Genetic testing may improve in the future, or new genes may be discovered, and a child with a negative test result may be offered genetic testing again.
Sometimes, the result of the genetic test is hard to interpret. Not every mutation in the NF1 gene causes neurofibromatosis. It may be unclear whether the mutation is a harmless change or one that will cause the signs of NF1. Genetic blood testing for neurofibromatosis type 2 is accurate in more than 90 percent of people who inherited the condition from a parent.
In these people, genetic testing of tumor tissue can greatly increase the likelihood of finding the neurofibromatosis type 2 mutation. Genetic testing is not required for the diagnosis of schwannomatosis and is not suggested for most people.
Genetic testing of the schwannoma tissue with a blood sample may be more informative. We can help you find a doctor. Call or browse our specialists. If you need help accessing our website, call Skip to main content. Diagnosing Neurofibromatosis. Diagnosing Schwannomatosis NYU Langone doctors perform diagnostic tests for schwannomatosis when a person has multiple schwannomas, or painful, distinct lumps in the skin or muscle, whether or not he or she has a family member with the condition.
Neurofibromatosis Type 1 Genetic Testing A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present.
Neurofibromatosis Type 2 Genetic Testing In neurofibromatosis type 2, some mutations are known to result in milder symptoms and progression of the condition. Schwannomatosis Genetic Testing Genetic testing is not required for the diagnosis of schwannomatosis and is not suggested for most people. Our Research and Education in Neurofibromatosis Learn more about our research and professional education opportunities.
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