Comprehensive Neuromuscular Disorders Panel Test code: 03280 • Up to 230 genes
Comprehensive Neuromuscular Disorders Panel
This panel provides a broad genetic evaluation of genes associated with hereditary neuromuscular disorders, including but not limited to:
- Muscular dystrophies
- Inherited myopathies
- Mitochondrial disorders
- Congenital myasthenic syndromes
- Rhabdomyolysis
- Other inherited conditions affecting muscles, nerves, and neuromuscular function
Hereditary neuromuscular disorders can have significant genetic and clinical heterogeneity, meaning that similar symptoms or clinical presentations may result from changes in different genes. As a result, phenotype alone may not always be sufficient to identify the underlying genetic cause.
Broad panel testing allows for an efficient evaluation of multiple potential genes based on a single clinical indication. The genes included in this panel have been selected based on available scientific and clinical evidence to support the evaluation of hereditary neuromuscular conditions.
Genetic testing may provide valuable information by helping to:
- Confirm or clarify a clinical diagnosis
- Identify an underlying genetic cause
- Distinguish between different hereditary neuromuscular disorders
- Help predict disease prognosis and potential progression
- Guide medical management and treatment planning
- Support appropriate monitoring and surveillance
- Facilitate earlier recognition of symptoms or complications
- Inform family planning and genetic counseling
- Identify potentially affected relatives who may benefit from genetic testing
- Support consideration for relevant clinical trials
Some genes included in this panel may also be associated with additional medical conditions unrelated to the neuromuscular disorders evaluated. These additional conditions are not included among the conditions specifically assessed by this test.
Conditions Not Currently Evaluated
This assay does not currently evaluate for:
- Facioscapulohumeral muscular dystrophy type 1 (FSHD1)
- Oculopharyngeal muscular dystrophy (OPMD)
- Myotonic dystrophy type 1 (DM1)
- Myotonic dystrophy type 2 (DM2)
If these conditions are clinically suspected and additional testing has not been performed, condition-specific testing should be considered when medically appropriate.
Genetic test results should be interpreted alongside the individual's medical history, physical examination, neurological findings, family history, laboratory results, and other diagnostic evaluations.