MOx 2.0 Case Study
Multiomic Testing Enables Precise Diagnosis for Niemann-Pick Type C1
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A success story from our multiomic Whole Exome Sequencing (WES) testing solution – CentoXome MOx 2.0. Check out our case study to see how CentoXome MOx 2.0 was able to establish a fast and definitive diagnosis by integrating WES with splicing analysis on RNA level and biochemical analytics.
Integrated genomic and biochemical testing facilitates the decision on the pathogenicity of clinical variants leading to higher diagnostic yield
Biochemical testing allows for orthogonal confirmation of disease – accelerating the path to a diagnosis by avoiding stepwise testing
Multiomics provides a complete clinical picture – enabling the assessment of disease severity and thus accelerating personalized treatments