Diagnostic Panel Updates: Neuromuscular Diseases (NMD) and Ion Channel Diseases (ION)

CeGaT has updated and expanded the diagnostic panel for neuromuscular diseases and the panel for ion channel diseases. Additionally, we have added the repeat diagnostics of the spinal and bulbar muscular atrophy (SBMA) to our portfolio.

As part of our regular updates, the diagnostics panel for neuromuscular diseases has been extended by 49 genes, to match current scientific data. In addition, the subpanel “periodic paralysis” (ION11), formerly part of the ion channel diseases panel, has been reassigned to the panel for neuromuscular diseases (now: NMD12).

In addition to panel diagnostics, we’ve established the repeat analysis of the AR (androgen receptor) gene in the field of neuromuscular diseases. Thus, if we suspect spinal and bulbar muscular atrophy (SBMA), we can analyse the disease associated CAG nucleotide triplet in this gene, and clarify the genetic basis of these X-chromosomal recessive muscle disorders.

In parallel, the diagnostic panel for ion channel diseases has been extended by a total of five genes.

Panel for Neuromuscular Diseases

Panel for Ion Channel Diseases