As part of the regular diagnostic panel updates, CeGaT has updated and expanded the Panel for Neuromuscular Diseases (NMD) following the latest scientific data. 33 genes have been added: They increase the probability of identifying the causative variant and cover additional clinical pictures.
One of the new genes added is the sorbitol dehydrogenase gene (SORD). In the recent publication by Cortese and colleagues1, it was shown that variants in this gene are the most common identified cause of autosomal recessive inherited neuropathy. Therefore, the inclusion of SORD in the panel allows making significantly more diagnoses, which goes along with new therapeutic possibilities for the treating physicians
After the update, the panel’s gene set for arthrogryposis (NMD14) contains 14 additional genes and now also covers the two clinical pictures of fetal akinesia and congenital contracture syndromes. Arthrogryposis is the term used to describe the symptoms of congenital joint contractures in at least two regions of the body that occur in a variety of often severe clinical pictures.
All CeGaT panels are examined with CeGaT’s large panel approach. We always sequence all genes of a panel and evaluate the requested gene set. If necessary, we can quickly extend the evaluation to other gene sets. This gives you access to flexible and cost-efficient differential diagnostics. In addition, we offer a screening of all differential diagnostic relevant genes of the panel for variants of ACMG classes 4 and 5. CeGaT’s panel diagnostics also include the free of charge regular re-evaluation of variants of uncertain clinical significance (VUS) to increase the diagnostic yield further.
We are convinced that all patients should receive the best possible diagnostics. For this reason, our panels routinely examine single nucleotide variation (SNVs) and copy number variants (CNVs) and check for mosaicism. If necessary, we validate pathogenic deletions or duplications using MLPA or qPCR before reporting. The highest quality is our standard.
1 Cortese, A., Zhu, Y., Rebelo, A.P. et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 52, 473–481 (2020). https://doi.org/10.1038/s41588-020-0615-4