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It is also possible for CMT to develop as a result of a new mutation or spontaneous mutation. These cases are called “de novo” or the new case of CMT in a family. A child who is a new mutation case can then pass the defect on to his/her children.
Since researchers have found many of the genes and mutations that cause CMT, they have been able to develop genetic tests that offer people information about their specific diagnosis. People consider genetic testing for a variety of reasons. One reason is to confirm a tentative diagnosis of CMT, since early symptoms of CMT can mimic those of other disorders. Another reason for a person with clear signs of CMT to have genetic testing is to enable other family members to determine if they are affected and help them make decisions regarding family planning.
Advice about genetic testing and genetic counseling can be found through the National Society of Genetic Counselors on the Internet at www.nsgc.org. Choose the resource link to find a genetic counselor near you.
The genetic testing for CMT is conducted by Athena Diagnostics in Worcester, MA. Your doctor can call for a testing kit which can then be FedExed back to Athena after your blood is drawn. Call Athena at 1-800-394-4493 or visit their website at www.athenadiagnostics.com.
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