Helping you diagnose complex genetic cases

You see firsthand the frustration patients and their families feel when they struggle through multiple rounds of genetic testing and don't receive a diagnosis. With Genomic Intelligence® rare disease diagnostic services, you give your patients the best possible chance to understand the molecular cause of their symptoms. We use the most sensitive genetic testing possible, handling everything from sample collection through delivery of an actionable clinical report. We work collaboratively with you to create the report. Plus we continue to be involved even after the report is generated. If you choose, we'll rerun the analysis and alert you to any significant changes as new disease information comes to light.

Working together we can truly make a difference in your patient’s diagnostic journey.

One test does it all

Whole genome sequencing provides better coverage of gene coding regions than NGS panel and exome sequencing. It also covers the remaining 98.5% of the genome that might shed light on your patient’s complex disorder. Due in part to its even, genome-wide coverage, whole genome sequencing also makes it possible to detect structural variants. Through the use of pioneering algorithms in the field of breakpoint analysis, we reliably identify and annotate structural variants, including CNVs. All together, this means that variants relevant to your patient’s diagnosis are less likely to be missed. 

You’re an important part of your patient’s diagnostic journey

You know each patient as an individual. You see his or her phenotypes firsthand. This is why our board-certified medical geneticists incorporate your knowledge of the patient into the analysis. They review the analysis results with you, seeking your input before a final clinical report is generated. Instead of merely being a recipient of the clinical report, you are an active, collaborative participant in its creation. You have full access to the analysis results using your personal login to the Genomic Intelligence® diagnostic console.

Results are revisited as our knowledge grows

Because the DNA regions of interest are not predetermined, whole genome sequencing data can be reanalyzed at any time. Without collecting another sample, or performing another sequencing run. New information about variants and genes associated with disease becomes available every day. Similarly, data analysis algorithms continue to evolve and improve. If you choose, unsolved cases can be periodically reanalyzed, and an alert can be sent when a potentially diagnosis-affecting change is identified as new information comes to light.