Case Studies
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.
Genomic Unity® genetic disorders testing
Compound heterozygous FXN variants explain progressive gait disturbance in 39-year-old female
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
IriSight® reproductive testing
Single exon deletion explains multiple congenital anomalies in male fetus
Compound heterozygous sequence variants explain hydrops fatalis in 2nd pregnancy loss