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Our virtual panels include over 3,000 genes selected based on the most up-to-date literature, gene reviews and variant databases. Our whole genome approach offers cost-effectiveness by reducing the need for multiple targeted tests, and maximized diagnostic yield, allowing you to combine panels, select individual genes, and surface variants across all regions of the genome.

Genetics in Ophthalmology

Genetic panel tests are increasingly valuable in the field of ophthalmology, as they provide critical insights into the genetic basis of various inherited eye diseases and conditions.

Virtual panel tests assist in diagnosing a wide range of inherited eye diseases, including retinitis pigmentosa, congenital cataracts, glaucoma, and inherited retinal dystrophies. These tests identify specific genetic mutations responsible for these conditions, helping confirm diagnoses and guide treatment decisions.

For inherited retinal disorders, such as retinitis pigmentosa or Stargardt disease, genetic panel tests can facilitate early diagnosis and intervention, enabling patients and families to better manage their conditions and make informed decisions about their eye health. The identification of at-risk family members enables the initiation of preventive measures and the provision of lifestyle recommendations. Simultaneously, it validates the need for regular check-ups under medical supervision. Genetic diagnosis also extends its utility to family planning considerations.

While genetic panel tests are highly valuable in ophthalmology, it’s essential to interpret their results in the context of a patient’s clinical presentation and other diagnostic tests. We recommend working closely with genetic counselors and other specialists to ensure that genetic information is used effectively to diagnose, treat, and manage ophthalmological conditions.

For further information on tailoring treatment plans to an individual’s genetic profile, leading to improved outcomes and reduced side effects, please visit our pharmacogenomics page.

Ophthalmology Panels

Anophthalmia or microphthalmia 
Bilateral congenital or childhood onset cataracts  
Corneal abnormalities
Glaucoma (developmental) 
Infantile nystagmus  
Ocular coloboma   
Optic neuropathy  
Retinal disorders

How to order

For information about our registration process and prices, please don’t hesitate to get in touch. A member of our friendly team will get back to you shortly.