A significant increase in sensitivity leads to almost perfect coverage of all genes. Also new scientific findings have been incorporated. The Panel for Neuromuscular Diseases is now available in version seven.
The sensitivity of the new version has been increased from > 98.4 % to > 99.997 % in non-homologous regions. This results in almost perfect coverage of the panel. Furthermore, the panel’s gene sets have been revised and updated according to the latest scientific research (oder findings). In particular the gene set for congenital myasthenic syndromes and arthrogryposis (formerly NMD06) has been divided into two dedicated gene sets:
- Congenital myasthenic syndromes (29 genes, NMD13) (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, VAMP1)
- Arthrogryposis (33 genes, NMD14) (ACTA1, ADCY6, ADGRG6, ALG3, BICD2, CHST14, CNTNAP1, DNM2, ECEL1, ERBB3, ERGIC1, FBN2, FKBP10, GLDN, GLE1, LGI4, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, PLOD2, SYNE1, TNNI2, TNNT3, TOR1A, TPM2, UNC50, VIPAS39, VPS33B, ZC4H2)
Our large panel approach is cost and time efficient: We always sequence all 344 genes of the neuromuscular disease panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to all other gene sets. Furthermore we offer to check all 344 genes of the neuromuscular disease panel for ACMG class 4 and 5 variants. All our diagnostic panels include a panel-wide deletion/duplication analysis – free of charge. We validate pathogenic deletions or duplications by means of MLPA or qPCR before we report them. The highest quality possible is our standard for diagnostics.