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.

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Latest news and resources

Webinars

The Importance of Family: When to Consider Genetic Testing for Family Members

Sep 03, 2020

Genetic testing is often a question for the whole family. In this educational webinar, Senior Geneticist Dr Kirsty Wells will talk through the different scenarios of when genetic testing for family members is potentially valuable. Case examples will be presented to illustrate how familial testing can make a crucial difference to the genetic testing outcome.

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New and improved clinical report

Sep 02, 2020

The Blueprint Genetics clinical statement has been updated to provide quicker access to an overview of genetic test results. Following valued customer feedback, a summary of all findings has been added to the report. 

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Webinars

Detección de CNVs – ¿Por qué es importante?

Aug 31, 2020

Las variaciones en el número de copia (CNVs) representan una pequeña pero relevante parte en el diagnóstico molecular. En este seminario web, la Dra. Raquel Pérez Carro, genetista en Blueprint Genetics, hará una revisión de las capacidades y limitaciones de las diferentes tecnologías de detección de CNVs, haciendo especial hincapié en los métodos de detección basados en secuenciación masiva (NGS) desarrollados recientemente.

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