Panel diagnostics: The panel for genetic neuromuscular diseases covers 378 genes. All these genes are sequenced simultaneously, as part of the CeGaT Exome Xtra. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. Additionally, mtDNA is part of the enrichment.
Maximize diagnostic options: Each gene set can be requested individually or in combination with other gene sets. It’s also possible to select a custom combination of genes (Custom Panel). Click here to view our gene sets.
Extensive medical reporting: The interpretation includes single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For every gene depicted in the gene sets, we analyse all coding regions as well as all known disease coding intronic variants. For mtDNA, phenotype associated hotspots are part of the analysis. Full analysis of mtDNA available upon request.
This diagnostic panel has a sensitivity of >99.6% for the heterozygous variant; the average coverage is >130x.