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.

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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
New Coverage: ≥99.0% ≥20x
Details: CNV analysis included
mtDNA analysis included

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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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CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

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