Hyperexcitable muscle disease

Key testing

• SMCP | Inherited Skeletal Muscle Channelopathy Gene Panel, Varies
  • Evaluates five genes associated with hereditary skeletal muscle channelopathies.

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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.

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Myopathy

Key testing

• RABMP | Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
  • Evaluates 83 genes associated with rhabdomyolysis and metabolic myopathy.

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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.