Genetic testing generates new possibilities
The importance of genetic testing
A genetic test helps healthcare professionals reach a definitive LGMD subtype diagnosis.
Receiving a genetic test is now more accessible
Genetic testing has become more accessible and the technology has greatly accelerated the time to diagnosis. A blood test, noninvasive buccal (inside of cheek) swab, or saliva sample is needed to help reach a diagnosis.
There are currently several programs that offer sponsored no-charge genetic testing to individuals:
Sponsored no-charge genetic testing for individuals suspected of having muscular dystrophy. The program includes a comprehensive neuromuscular panel that tests for neuromuscular disorders, including known LGMD genes. Tests can only be ordered by healthcare providers.*
This is not an exhaustive list of testing options for LGMD. Other testing options are commercially available through insurance or self-pay.
For individuals who have received negative or inconclusive results, the Rare Genomes Project can provide whole exome sequencing and research opportunities.
*The tests offered through these programs are laboratory-developed tests (LDT) that have been validated by Invitae and PerkinElmer Genomics. For more information, please review the patient consent forms (Invitae, PerkinElmer Genomics).
The privacy of individuals tested through both programs is protected:
± The program will never release an individual's genetic information to their insurance company
± Third parties, including commercial organizations, may receive data indicating that an individual has been diagnosed in a given medical practice, but no individually identifiable information is shared