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
DMD inversion provides genetic diagnosis, enabling access to treatment options for 16-year-old male
Deep intronic variant explains progressive myopathy in 19-year-old male
Different diagnosis, same phenotypes
Partial exon deletion plus deep intronic SNV explains juvenile parkinsonism in 16-year-old male
Heteroplasmic mitochondrial deletion explains multiorgan dysfunction in 19-year-old female
Compound heterozygous FXN variants explain progressive gait disturbance in 39-year-old female
Inversion explains developmental delay and physical anomalies in 11-year-old male
SNV in perinatal lethal gene explains suspected Joubert syndrome diagnosis in 4-year-old male
Overlapping 1bp and 7bp indels in COL18A1 explain retinal symptoms in 11-year-old male
Biallelic RFC1 expansion confirms clinical CANVAS diagnosis in 70 year-old-male
Trans splice variants explain suspected skeletal dysplasia in newborn female
Compound heterozygous variants in an sncRNA explains multisystemic symptoms in 4-year-old male
Partial exon deletion explains clinical Rett syndrome diagnosis in 9-year-old female
Compound heterozygous mobile element insertion and SNV explains progressive dysphagia in 42-year-old male
Single exon deletion explains epilepsy and developmental delay in 2-year-old male
IriSight® reproductive testing
Single exon deletion explains multiple congenital anomalies in male fetus
Compound heterozygous sequence variants explain hydrops fatalis in 2nd pregnancy loss
De novo indel explains hypoplastic left heart in male fetus