MOx 2.0 Case Study
Utilizing Transcriptomics to Diagnose Wiskott-Aldrich Syndrome
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A success story from our multiomic Whole Exome Sequencing (WES) testing solution – CentoXome MOx 2.0 – now including Transcriptomics.
Check out our case study to see how we were able to diagnose this young patient. By using RNA analysis for splicing variants, we were able to give definite answers to the young patients' family.
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
Includes RNA analysis for splicing variants, followed by available biomarker and enzyme confirmatory testing