Additional neuromuscular disorders
Expert developed, patient focused
Featuring testing for spinal muscular atrophy (SMA), neuromuscular myopathy, and other neuromuscular disorders, our comprehensive menu of focused panels can provide clarity, equipping providers with diagnostic confidence.
Additional neuromuscular disorders Test menu
Hyperexcitable muscle disease
Key testing
- SMCP | Inherited Skeletal Muscle Channelopathy Gene Panel, Varies
- Evaluates five genes associated with hereditary skeletal muscle channelopathies.
Motor neuron disease
Key testing
- MNDP | Inherited Motor Neuron Disease Gene Panel, Varies
- Evaluates 33 genes associated with motor neuron disease and repeat expansion analysis for C9orf72.
- SOD1Z | SOD1 Gene, Full Gene Analysis, Varies
- Detects single nucleotide and copy number variants in the SOD1 gene, which is associated with ALS.
- C9ORF | C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
- Confirms clinically suspected cases of c9FTD/ALS, FTD, or ALS.
- SMNDX | Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
- Detects and quantifies survival motor neuron 1 (SMN1) exon 7, SMN2 exon 7, and SMN1 rs143838139 (g.27134T>G) associated with SMA.
- SBULB | Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies
- Detects amplification-type mutations within the AR gene.
Myopathy
Key testing
- RABMP | Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
- Evaluates 83 genes associated with rhabdomyolysis and metabolic myopathy.
Neuromuscular junction
Key testing
- CMSP | Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
- Evaluates 28 genes associated with congenital myasthenic syndromes.
- LGCMP | Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies
- Evaluates 65 genes associated with limb-girdle muscular dystrophy and congenital myasthenic syndrome.