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Ophthalmology

Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions. Currently, we know of more than 350 different genes associated with ophthalmologic diseases, including early-onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt disease, and Stickler syndrome among others. By providing a definitive diagnose through genetic testing, you can prevent or slow down the course of your patients’ eye diseases.

CentoVision

CentoVision is carefully designed to find the genetic basis of eye diseases, including those that are the leading causes of blindness among infants (Leber congenital amaurosis), children (early-onset retinitis pigmentosa), and adults (pattern dystrophy). Our panel includes the most common ophthalmology diseases, such as congenital glaucoma, retinitis pigmentosa, Stargardt disease, Stickler syndrome, achromatopsia, and Usher syndrome, among others. It also screens for different types of albinism (oculocutaneous and ocular) as well as Hermasky-Pudlak syndrome.

No. of genes:378
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

COMMON SYNDROMES AND DISORDERS COVERED

Achromatopsia
Albinism
Bardet-Biedl syndrome
Cataract
Cone-rod and cone dystrophy
Flecked retina
Glaucoma
Hermansky-Pudlak syndrome
Leber congenital amaurosis
Meckel syndrome
Microphthalmia/anophthalmia/coloboma spectrum
Oculomotor apraxia
Optic atrophy
Progressive external ophthalmoplegia
Retinitis pigmentosa, autosomal dominant
Retinitis pigmentosa, autosomal recessive
Stargardt disease
Stickler syndrome
Usher syndrome
Vitreoretinopathy
Wagner syndrome

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