Diagnostic Resources

Genetic Analysis

If you have never had genetic analysis, or if your genetic analysis was unclear (see Unclear Results below), the Jain Foundation may be able to help.  The Jain Foundation provides diagnostic support for people suspected of having LGMD2B/Miyoshi Myopathy/Dysferlinopathy. If your doctor believes you may have Limb Girdle Muscular Dystrophy 2B and you fulfill the screening criteria, we provide further analysis.  You can have your doctor reach out to us, or you can reach us directly at patients@jain-foundation.org for additional details.  To expedite the process, please obtain copies of your muscle biopsy report and/or genetic report if you have them.

Unclear Results

If you have a genetic report, but the results are unclear, additional testing could help to confirm a diagnosis of dysferlinopathy. A genetic diagnosis of dysferlinopathy requires two disease-causing (pathogenic) variants of the dysferlin (DYSF) gene.  An unclear result of genetic analysis of the dysferlin gene could be because there was only one disease-causing variant identified, or one or more variants of unknown significance (VOUS). VOUS are changes in the gene for which there is not enough evidence currently to determine if it is disease-causing or benign. The Jain Foundation directs research projects that seek to clarify unclear mutations (VOUS) and identify additional dysferlin mutations not found by typical diagnostic methods.  If you have an unclear genetic report with 1 DYSF variant or 1 or more DYSF VOUS, please contact the Jain Foundation at patients@jain-foundation.org to get details about accessing this analysis. 

Getting Genetic Testing

If you are interested in getting genetic testing, we would encourage you to talk to your doctor or a genetic counselor about the various genetic testing options and what would be most appropriate for you. We are happy to share genetic testing options that are specific to LGMD, as well as a directory of clinicians that are familiar with LGMD and our programs.