Detect Muscular Dystrophy
Detect Muscular Dystrophy is a sponsored, no charge genetic testing resource for those living in the US suspected of having a form of myopathy, who show symptoms of respiratory impairment or cardiac dysfunction, and who do not yet have genetic confirmation. Accurate and early identification of affected individuals allows for improved clinical outcomes. We encourage the NM community to take advantage of this free program while it lasts. This genetic testing is not processed through any health insurance. Saliva or buccal swab test kits can be requested via this program for affected patients by a qualified medical provider that you know or the Detect program can assign a provider to you for a fee. Fill out this quick Contact Form for personalized guidance and support from the AFBS team.
Beggs Lab Genetic Testing
In conjunction with its Nemaline Myopathy Biobank program, Beggs Lab also offers free genetic confirmation testing for complex cases without a clear diagnosis. Please contact Stacy.Cossette@childrens.harvard.edu or BeggsLabGC@childrens.harvard.edu for more information.