NEW YORK (GenomeWeb) – A consortium of limb-girdle muscular dystrophy (LGMD) family foundations has launched a program to provide free genetic testing to people suffering from muscular dystrophy.
The program is aimed at helping patients suffering from rare muscle diseases that share common symptoms but which are caused by mutations in large numbers of different genes. Because of genetic diversity, the high cost of genetic tests, and the unwillingness of some insurers to reimburse for such tests, many individuals with the diseases go without a definitive diagnosis. The program is being launched today in anticipation of Limb-Girdle Muscular Dystrophy Awareness Day, which will be celebrated each year on Sept. 30 starting next year.
The sponsors of the program are the Cecil B. Day Family; Coalition to Cure Calpain 3; Jain Foundation; Kurt+Peter Foundation; LGMD2D Foundation; LGMD2I Fund; and McColl-Lockwood Laboratory.
The program is launching with a preliminary study of 100 eligible US residents who will undergo genetic testing with a panel of 35 genes known to be involved in various forms of limb girdle muscular dystrophy and other muscle diseases with similar symptoms. Depending on the outcome of the study, the program may be expanded to include additional patients, including those outside of the US.
Individuals who believe they may have a form of limb girdle muscular dystrophy are required to take an online quiz to determine whether they are eligible to take part in the program. Those who are chosen will need to send in a saliva sample for analysis. They will receive a genetic report to consult with their physicians for counseling and disease management.