Rare Genetic Disorders

Helping you bring advanced WES and WGS testing in-house

Rare genetic disorders are often complex and difficult to diagnose. You’d like to offer advanced whole exome and whole genome testing in-house, but setting up or expanding support for an appropriately equipped and staffed NGS core facility is an expensive and time consuming task. We are pioneering a new way - an end-to-end virtual lab solution that offers you the best of both worlds: low infrastructure costs paired with an expanded, revenue-generating test menu. A menu that provides superior service to your clients, at a lower overall cost to you and them.

A virtual NGS core

Our fully automated, end-to-end Genomics Intelligence® platform enables you to go from sample collection to a signed clinical report without purchasing new sequencers, or setting up new bioinformatic pipelines. Prearranged discounts with integrated world-leading clinical sequence providers keep your per-sample sequencing costs low, with no minimum volume required. Our secure, cloud-based bioinformatic pipeline performs the data analysis. Gold-standard tools and best practices, combined with proprietary algorithms, accurately and efficiently identify the most relevant variants from complex whole genome and exome data. Annotated and filtered variants are presented for evaluation within a diagnostic console. Your clinicians generate signed clinical reports with your organization’s branding in a single mouse click. You’re freed from costly infrastructure setup and maintenance, yet able to deliver high quality diagnostic results.

One sequencing run, many possible tests

Whole genome sequencing provides the most comprehensive view of a patient’s genome. Because the DNA regions of interest are not predetermined, one saliva sample and the data from one sequencing run can support many analyses. Thanks to in silico panel technology, you can independently analyze discrete data slices ranging in size from a single gene to thousands of genes. Genome-wide coverage combined with proprietary algorithms enables you to detect structural variants, trinucleotide repeat expansions and mitochondrial variants in addition to small sequence changes. The expense of sequencing a patient’s DNA is only incurred once, yet the number and type of tests that you can perform is unlimited.

Keep your expert clinicians involved

With outsourced tests, clinicians and genetic counselors have little input into the content of clinical reports. Yet they have the best knowledge of the patient’s phenotypes, which can make a significant difference in the diagnostic accuracy of the report. With access to the Genomic Intelligence® diagnostic console, your clinicians are active participants in the diagnostic process. Relevant variants are easily reviewed and selected. With a single click, your clinicians generate a clinical report fully customized with your organization’s logo and medicolegal language. Alternatively, our board-certified medical geneticists can generate and sign the clinical reports, based on their interpretation of the results.

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