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A variant resolution service for limb girdle muscular dystrophies

The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders caused by genetic variants in around 30 genes. Approximately half of individuals with a clinical diagnosis of LGMD are found to have genetic variants that are not clearly connected to LGMD; these are called variants of uncertain significance (VUS). Uncertain results may be resolved with additional clinical information and/or family testing to provide a definitive diagnosis.

The genetic counselors at InformedDNA® are available to assist with variant resolution. VUSResolve LGMD is a no-cost genetic counseling service sponsored by Sarepta.

Are you a healthcare provider with a 
patient who may qualify?
Use our convenient online referral tool:
Who is eligible?
  • Individuals who live in the United States, AND
  • Have at least one VUS in the CAPN3 gene, OR
  • Have at least one VUS in the ANO5, SGCA, SGCB, SGCG, DYSF genes, AND:
  • One pathogenic/likely pathogenic variant in the same gene, OR
  • A second VUS in the same gene
What genetic services are included?

The genetic counselors at InformedDNA will:

  • Review the patient’s genetic testing report
  • Check on the current classification status of the reported VUS
  • Communicate with the testing laboratory to determine what, if any, additional information is needed to help resolve the VUS
  • Meet with the patient in a telehealth genetic counseling appointment to discuss the VUS and any additional steps needed to resolve the VUS (if needed)
  • Facilitate family member testing (if needed)
  • Provide additional clinical information to the lab (if needed)
  • Provide optional follow-up counseling if the VUS is resolved
  • Send a summary report to the referring provider
Healthcare providers; refer patients 
and upload genetic test reports

This program is sponsored by Sarepta. No personal identifying information of individuals participating in this genetic counseling program will be shared with Sarepta