Ophthalmology

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.

Nucleus:
Easy ordering and networking platform for clinicians

Subscribe to our newsletter

Subscribe
Find the right test for your patient
Our clinical statement is industry leading.
See a sample report

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

Webinars

Understanding Skeletal Dysplasias—Recent Advances in Genetics

Nov 24, 2020

In this educational webinar, Clinical Liaison  Alicia Scocchia, MS, CGC, will review molecular causes of skeletal dysplasias and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Case examples will be explored highlighting complex clinical presentations and the involvement of copy number variants in diagnostic findings.

Read more

New buccal swabs for easier sample collection available from November 23, 2020

Nov 09, 2020

New Ora-Collect OCR-100/OCD-100 buccal swabs will be available for healthcare providers to order through our website or online portal, Nucleus. This new specimen collection kit addresses the need for more accessible sample collection, especially for pediatric patients or when collecting sufficient sample volume with a traditional saliva kit is otherwise challenging.

Read more

Subscribe to our newsletter

Subscribe