To be diagnosed with LGMD2D, a genetic test is required to confirm the presence of mutations in the alpha-sarcoglycan gene.
Free Diagnostic Programs
If you do not have a genetic diagnosis, there is a new company that has formed called In-Depth Genomics that will help patients with undiagnosed LGMDs. You can learn more about the program and sign up at https://www.indepthgenomics.com/raring-to-go/
Online LGMD subtype prediction
There are a number of laboratories in the United States that perform both sequencing of the alpha sarcoglycan gene as well as gene panels that include other sarcoglycanopathies that have similar symptoms. The Jain Foundation has developed a free online tool – ALDA (Automated LGMD Diagnostic Assistant) – to help physicians determine a patient’s most likely diagnosis based on clinical presentation and laboratory findings. If you are interested in learning more or utlizing this free tool, please contact your physician to help guide you through the process.
US Laboratories that offer Alpha Sarcoglycan Mutational Analysis