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

Laboratory Alpha Sarcoglycan Sequencing Sarcoglycan Panels
Athena Diagnostics Alpha sarcoglycan sequencing – Test Code 564 Sarcoglycan panel – Test Code 587
Centogene Alpha sarcoglycan sequencing N/A
Emory Genetic Laboratory Alpha sarcoglycan – Test Code SSGCA Sarcoglycan panel – Test Code SSGCP
Medical Neurogenetics Alpha sarcoglycan sequencing N/A
Nationwide Children’s Hospital, Columbus, Ohio Alpha sarcoglycan – Test Code MOL38 N/A
Prevention Genetics Alpha sarcoglycan – Test Code 352 Recessive muscular dystrophy panel – Test Code 360
University of Iowa N/A Recessive muscular dystrophy common mutation sequencing – Test Code LGPCR