Case Studies

We enable precision medicine, one person at a time

Through our testing we aim to provide clear and empowering information for patients. Information that can lead to precise therapies, medications, and management. Oftentimes we uncover information missed by other genetic tests, or that would typically be found only after a time-consuming and expensive series of iterative tests.

Below are just a few examples of cases where our comprehensive testing provided answers when others couldn’t.

Missed By Others, Detected By Us

Genomic Unity® – DMD inversion provides genetic diagnosis, enabling access to treatment options

Genomic Unity® – DIP2B repeat expansion explains developmental delay and symptoms of chronic functional disease

Genomic Unity® – Heterozygous gene deletion explains clinical Diamond-Blackfan anemia diagnosis

Genomic Unity® 2.0 – UPD and aberrant methylation confirm clinical Prader-Willi syndrome diagnosis

Genomic Unity® – Deep intronic variant explains progressive myopathy

Genomic Unity® – Two exon TLK2 deletion explains global developmental delay and failure to thrive

Genomic Unity® – Elusive KLHL40 3’-UTR second variant explains congenital nemaline myopathy

Genomic Unity® – Compound heterozygous variants in an sncRNA explains multisystemic symptoms

Genomic Unity® – Partial exon deletion explains clinical Rett syndrome diagnosis

Genomic Unity® – Single exon PEX1 deletion confirms suspected Zellweger spectrum disorder diagnosis

Genomic Unity® – Biallelic FGF14 expansions explain progressive gait imbalance

Genomic Unity® – SNV in perinatal lethal gene explains suspected Joubert syndrome diagnosis

Genomic Unity® – Partial exon deletion plus deep intronic SNV explains juvenile parkinsonism

Genomic Unity® – Heteroplasmic mitochondrial deletion explains multiorgan dysfunction

Genomic Unity® – Compound heterozygous FXN variants explain progressive gait disturbance in 39-year-old female

Genomic Unity® – Inversion explains developmental delay and physical anomalies

Genomic Unity® – Overlapping 1bp and 7bp indels in COL18A1 explain retinal symptoms in 11-year-old male

Genomic Unity® – Trans splice variants explain suspected skeletal dysplasia in newborn female

Genomic Unity® – Compound heterozygous mobile element insertion and SNV explains progressive dysphagia in 42-year-old male

Genomic Unity® – Single exon deletion explains epilepsy and developmental delay

Genomic Unity® – Single exon deletion explains intellectual disability

IriSight® – Compound heterozygous sequence variants explain hydrops fatalis in 2nd pregnancy loss

IriSight® – De novo indel explains hypoplastic left heart in male fetus

IriSight® – Single exon deletion explains multiple congenital anomalies in male fetus

First-Line Testing, Lighting Up the Undetectable

Genomic Unity® – Biallelic RFC1 expansion confirms clinical CANVAS diagnosis in 70 year-old-male

One Test, Dual Diagnosis

IriSight® – Dual diagnosis explains phenotypes in male fetus

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