Posted: 02/01/2018
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. To learn more about ClinVar guidelines, please click here. 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.
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