We enable precision medicine, one person at a time
Wherever we meet patients on their healthcare journey, we are proud to play a role in helping answer some of their most pressing questions. Through our work, we hope to provide clear and empowering information. Information that can lead to a diagnosis and precise therapies, medications, and management. Below are just a few of the stories that show how our comprehensive testing helped on their trek.
- De novo indel explains hypoplastic left heart in male fetus
- Deep intronic variant explains progressive myopathy in 19-year-old male
- Inversion explains developmental delay and physical anomalies in 11-year-old male
- Heteroplasmic mitochondrial deletion explains multiorgan dysfunction in 19-year-old female
A diagnosis only the Variantyx genome analysis could find, ending a years-long diagnostic search.
The journey for a diagnosis can be a long, expensive, and emotionally taxing process for everyone – the patient, their family, and their healthcare providers. But whole genome data and analysis is transforming this journey, answering unresolved questions.
Uncommon symptoms in a well-known condition led to pursuing the unhelpful targeted testing.
While a targeted genetic analysis can be a great option for making a diagnosis and guiding care, sometimes a comprehensive analysis is a better option. This is especially true when a person’s symptoms aren’t the most common symptoms of a condition.
Whole genome analysis simplified testing and found an unexpected combination of genetic variants.
Typical stepwise testing can lead to incremental answers from multiple tests and samples. By using whole genome analysis to search for multiple types of genetic variants, we can shorten a genetic work-up.
Whole genome sequencing helps guide care.
With the clarity of a diagnosis, healthcare providers can chart the best course of action for their patients. Whole genome sequencing data can provide this clarity by sequencing an entire gene, not just the coding portions (exons). This allows for in-depth analysis that goes beyond the traditional scope, finding missed diagnoses, and informing care.