Comprehensive genetic testing for rare disease patients
You see the frustration rare disease patients and their families feel when they struggle through multiple costly rounds of genetic testing and don’t receive a diagnosis. With Variantyx Unity™ test, you give your patients the best possible chance to understand the molecular cause of their condition. 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 and will, if you choose, continue to periodically reanalyze the data and alert you to any significant findings as new disease information comes to light.
The result? A higher diagnostic yield with fast turnaround time at a lower overall cost.
One test does it all
A typical rare disease diagnostic odyssey follows a series of individual genetic tests. Fragile X testing for common FMR1 repeat expansions, array CGH for identification of large deletions and duplications and targeted panels for investigating relevant candidate genes. Eventually leading to exome sequencing when a diagnosis remains elusive. Variantyx Unity™ test is the first offering to perform all of these genetic tests in one. The test uses whole genome sequencing (WGS) and our proprietary Genomic Intelligence® technology to detect small nucleotide changes, structural variants, short tandem repeats and mitochondrial variants from a single saliva or blood sample. All together, more variants relevant to your patient’s phenotype are likely to be found.
You’re an important part of your patient’s diagnostic journey
You know each rare disease 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® clinician diagnostic console.
Negative results are not final
New information about variants and genes associated with rare diseases becomes available every day. Similarly, data analysis algorithms continue to evolve and improve. Because the DNA regions of interest are not predetermined, whole genome sequencing data from your patient can be stored and reanalyzed at any time. Without collecting another sample, performing another sequencing run or undertaking another genetic test. If you choose, unsolved cases can be periodically reanalyzed, and an alert can be sent to you when a potentially diagnosis-affecting change is identified.