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?
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
