In this webinar Laboratory Director Dr Jennifer Schleit reviews the capabilities and limitations of different CNV detection technologies, with an emphasis on more recently developed NGS-based CNV detection methods. We will use case examples to highlight the diagnostic power of combining both CNV detection and sequence analysis in a single testing method.Read more
Genetic testing for ophthalmology
For patients in the USA with inherited retinal degeneration, click here to learn more about the no-cost My Retina Tracker Program.
Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases. Blueprint Genetics also participates in a program providing no-cost, high quality genetic testing to patients with an inherited retinal disease in the United States. Read more here.
Genetic testing for eye disorders is becoming an increasingly useful diagnostic tool, especially considering the promising developments in gene therapy in this field. A number of therapies are now in clinical trials, and gene therapy is quickly becoming a reality for patients with inherited retinal diseases (PMID: 24439297, 26835369, and https://clinicaltrials.gov).
The broadest group of diseases covered by our panels are retinal dystrophies, including retinitis pigmentosa, cone rod dystrophy, macular dystrophies, congenital stationary night blindness, Leber congenital amaurosis, achromatopsia, flecked retina disorders, and vitreoretinopathies. The panels also cover syndromes with ophthalmologic manifestations, such as Usher syndrome and Bardet-Biedl syndrome.
What genetic diagnostics can offer for ophthalmology cases
Retinal dystrophies are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostic testing is the most efficient way to subtype these diseases. High quality testing combined with clinical interpretation provide the necessary information to confidently make individualized treatment and management decisions.
In addition to its value in making a clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of each disease. Genetic diagnosis can also help in genetic counseling and family planning. Additionally, a potential benefit of genetic diagnosis is the opportunity to access novel therapies.
How to order
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.
Latest news and resources
VUS, the unwanted result? Collaboration between clinicians and laboratories helps lay the foundation for future reclassification
What can you do to help advance reclassification? In her blog, Senior Geneticist Eija Seppälä lists what to consider when determining how likely it is that a VUS will be reclassified.Read more