Genetic Testing For Eye Disease

Many of the genetic forms of eye disease are rare in the general population and involve an optometrist or ophthalmologist to make the diagnosis. Making the correct diagnosis can help your physician determine if there are any other health issues that may arise aside from vision problems and whether there are any specific treatments that need to be considered.

Genetic Testing For Eye Disease at Chicago Genetic Consultants

We perform genetic testing for the following eye diseases including:

  • Achromatopsia
  • Bietti crystalline corneoretinal dystrophy
  • Bradyopsia
  • Chediak-Higashi syndrome
  • Choroideremia
  • Cone-rod dystrophy
  • Congenital non-progressive cone-rod synaptic disorder
  • Congenital nystagmus type 1
  • Congenital stationary night blindness
  • Early and late-onset retinal degeneration
  • Ectopia lentis
  • Enhanced S-cone syndrome
  • Familial exudative vitreoretinopathy
  • Fundus albipunctatus
  • Gyrate atrophy of choroid and retina
  • Isolated microphthalmia
  • Juvenile retinoschisis
  • Leber congenital amaurosis
  • Microcornea, myopic chorioretinal atrophy, and telecanthus
  • Microcephaly with chorioretinopathy
  • Microphthalmia, anophthalmia, coloboma (MAC) spectrum
  • Myopia with cataract and vitreoretinal degeneration
  • Neovascular inflammatory vitreoretinopathy
  • Oculocutaneous albinism
  • Optic atrophy
  • Persistent hyperplastic primary vitreous
  • Retinitis pigmentosa
  • Snowflake vitreoretinal degeneration
  • Stargardt disease
  • Sveinsson chorioretinal atrophy
  • Usher syndrome
  • Vitelliform macular dystrophy and autosomal recessive bestrinopathy
  • And many others. Contact us with questions.

Here’s how it works:

  1. We’ll have an initial consultation via phone or video to determine if you’re a candidate for genetic testing.
  2. You’ll submit a blood or saliva sample using a test kit we’ll have mailed to you.
  3. We’ll have a follow up consultation via phone or video. We’ll walk through your results and make recommendations for you and your family members.

Overall the process takes 2 – 3 weeks.

Insurance and Payment

Most insurers cover genetic testing if certain conditions are met. We’ll review those with you at your initial consultation. If you’d prefer to self-pay, the laboratories accept credit cards, and the cost for the testing is as low as $250.

Additional Support

We also connect individuals and families with patient advocacy groups. It often helps to speak to other people who are dealing with many of the same difficult issues and decisions you may encounter.