Retinal dystrophies are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostics is the most efficient way to subtype these diseases, and provides the necessary information to make confident individualized treatment and management decisions.
22 diagnostic tests, covering 302 genes
associated with ophthalmological conditions.
Retinal Dystrophy Panel
Retinal Dystrophy Panel is a 181 gene diagnostic tool
developed for patients with clinical suspicion of
Our diagnostic process
From sample to clinical interpretation
Ordering and sample preparation
After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.
We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.
Data analysis and interpretation
We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.
Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.