Genetic testing is a laboratory procedure that looks at changes in genes. Typically, it involves a simple blood test.
In neuromuscular diseases, genetic testing can:
- Confirm a diagnosis
- Identify the genetic mutation so that care options can be considered
- Provide information for identifying appropriate clinical trials for potential participation
- Assist with family planning
Different genetic testing methods are used to fully understand your child’s mutation (for example, full gene sequencing can reveal small mutations), and more than one test may be needed.
As new therapies and disease management strategies targeting specific mutations are developed and become available, it will be increasingly important to know your child’s mutation. This will allow you and your child’s doctor to determine a path for care, whether that is managing the disease or participating in clinical trials.