To be diagnosed with LGMD2D, a genetic test is required to confirm the presence of mutations in the alpha-sarcoglycan gene.
Free Diagnostic Programs
The LGMD2D Foundation has previously partnered with other LGMD family foundations to help provide free genetic sequencing for individuals with a muscle problems. This program has now ended but a new program will be announced in the summer 2017. If you do not have a genetic diagnosis and wish to be informed about this new diagnostic program when it is available, please register with the LGMD2D Foundation.
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