We are pleased to announce that we have made substantial improvements in our ability to search for and identify the known pathogenic variants likely to cause dystonia.
Our Comprehensive Dystonia Panel now includes 192 genesand 5,048 pathogenic variants associated with conditions linked to dystonia. This panel includes mtDNA sequencing and deletion analysis with the option of adding HTT repeat expansion analysis, ensuring you are provided with the most comprehensive testing possible.
Understanding a comprehensive panel may not always be necessary, we updated 4 of our existing subpanels to cover more medically relevant genes and increase their clinical sensitivity. In addition, we have introduced a new Dopa-Responsive Dystonia panel to our portfolio.
All of our next-generation sequencing panels include single-exon resolution copy number analysis to provide you the most clinically sensitive testing possible.
Now Covering 100% of Expert Approved Pathogenic Variants
We are proud to announce that our MNG Exome™ now covers all pathogenic variants that are practice guideline and expert panel reviewed in ClinVar. These include variants located in intronic regions that are not covered by standard exome sequencing. In addition to sequencing, we include copy number analysis, mitochondrial genome sequencing + deletion, and heteroplasmy assessment.
New to MNG Exome™: Uniparental Disomy
To further enhance the comprehensiveness of the MNG Exome™, we have added the first commercially available uniparental disomy detection to our whole exome testing. Uniparental disomy can disrupt parent-specific genomic imprinting, resulting in disorders such as Angelman syndrome and Prader-Willi syndrome. The addition of uniparental disomy detection in the MNG Exome™ is essential for improving our ability to finding the answers you need for your patient in one single test.