Finding a mutation in VCP through genetic testing is the only conclusive way to establish an accurate diagnosis. There are a number of options to order genetic testing of VCP. It is recommended to go through a physician and to use a genetic counselor. Physicians can order full sequencing of the VCP gene, or targeted sequencing of exons where mutations are most often found. Turnaround time is within 3 weeks for each tier of testing ordered.
VCP Gene Testing Options:
Free Genetic Testing through Perkin Elmer: https://www.perkinelmergenomics.com/lanternproject/. The VCP panel is available through the Limb Girdle Muscular Dystrophy link.
GeneDx includes the VCP gene in some of their panels. Type "VCP" in the search box at the top right to see a listing.
Our Medical Advisers have offered to be a resource for anyone needing more information.
Dr. Virginia Kimonis at UC Irvine
Dr. Chris Weihl at Washington University in St. Louis
(Disclaimer: Cure VCP Disease, Inc. is providing the above information to the best of our knowledge. The organization is not advocating any particular company or method.)