What genetic tests are used?

Different types of genetic tests can be used. Some test a panel (a set) of known muscle disease genes at once; others use exome sequencing or genome sequencing (reading most or all of a person’s genetic code) to look for changes across many genes. All of these can identify the specific pathogenic variants (disease-causing changes) in the LAMA2 gene. Genetic testing has become the most reliable and least invasive way to confirm the diagnosis.