Genetic testing for LGMDs

Limb-girdle muscular dystrophies (LGMDs) were characterized in the clinic before anyone knew what caused the diseases. Consequently, several different diseases that all looked the same to physicians were lumped together into one category that they called “LGMD.” As science advanced, it was discovered that many different genetic variants underlie these conditions. Currently, there are more than 30 different genetically defined forms (subtypes) of LGMD, and more are found every year. Genetic testing to confirm your subtype of LGMD is helpful as a precise genetic diagnosis can guide prognosis, monitoring for complications, and genetic counseling discussions.  New therapies that are in human clinical trials or are in development often apply to specific genetic subtypes of LGMD.

Genetic testing is often performed using a blood or saliva sample, or a swab from the inside of your cheek. There are many genetic labs that perform the testing necessary to confirm your genetic diagnosis. Most labs accept self-pay and insurance.

We highly encourage you to obtain a copy of your genetic report, which may help you to enroll in future clinical studies and trials. You can also upload your genetic report to the LGMD2A/Calpainopathy Registry, which will help Coalition to Cure Calpain 3 understand how different gene changes affect disease onset, symptoms, and progression.

Programs that offer sponsored no-charge genetic testing to individuals:

• The Lantern Project
• Rare Genomes Project
• Detect Muscular Dystrophy

USA/International (May also accept international samples. Check with the individual companies for details.):

• Invitae  
• Perkin Elmer Genomics 
• Eurofins Clinical Expertise
• GeneDx
• Prevention Genetics
• Blueprint Genetics
• Nationwide Children’s Hospital
• Athena Diagnostics
• CeGaT

Europe:

• Orphanet The website lists clinical labs.  On this site you search for disease name (LGMD2A/LGMDR1) or gene name (CAPN3) to find labs that evaluate calpain 3 either singly or as part of a panel.
• Centogene (Germany) 
• CeGaT (Germany) 

Research: