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Rare-Disease-Diagnostics-Webinar

A New Paradigm for Genomic Diagnosis: Combining Optical Genome Mapping, Whole Genome Sequencing and Transcriptome Analysis

Praxis Genomics has introduced a new testing paradigm into the clinical evaluation of both constitutional and somatic disorders: Instead of targeted and stepwise evaluation of samples, we perform whole genome sequencing and optical genome mapping to identify both small and structural variants and transcriptome sequencing to evaluate the functional consequences of the variants identified.

To perform this test at a price that is similar to the currently available testing options, we rely on the DNBSEQ-T7 instrument from Complete Genomics. We have validated and have been using this instrument for all our testing and we find it to perform with the same sensitivity and specify across the board as other currently available state of the art instruments.

There are several practical benefits to using this instrument as well, such as smaller required batch size, faster data acquisition and local demultiplexing which provides time savings and flexibility with downstream analysis pipelines. In summary, the quality and affordability of the data provided by this instrument will make it a major player in diagnostic testing and it will allow genomic testing can take centerstage.

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