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Genetic Testing at Ketchum Health

Ketchum Health offers genetic testing for many eye conditions, including inherited retinal dystrophies and mitochondrial optic nerve conditions. 

Genetic testing can aid in:

  • Determining the specific genetic cause of the inherited eye condition.
  • Providing a more accurate prognosis.
  • Determining the inheritance pattern of the condition and identify inheritance risks for family members.

Genetic testing is necessary for:

  • Determining eligibility for gene therapy and interventional gene therapy clinical trials. 

Conditions that can be tested include:

  • Achromatopsia
  • Bardet-Biedl syndrome
  • Choroideremia
  • Leber congenital amaurosis
  • Retinitis pigmentosa
  • Stargardts disease
  • Usher syndrome
  • And many more

We can screen over 300 different genes known to be associated with inherited eye conditions. 

Genetic testing procedure:

Most tests can be conducted with a saliva sample, though blood sample testing is also available.

Our team of doctors can discuss with you if genetic testing will be useful for the diagnosis, treatment, and management of your specific condition.

We will determine your eligibility for funded genetic testing programs, which greatly reduce the cost of testing. 

After receiving your results, our doctors can discuss any treatment options you may be eligible for based on your results. This includes determining eligibility and facilitating referrals for gene therapy and interventional gene therapy clinical trials. 

Our team can provide referrals for additional genetic counseling for patients and family members. 

Low vision services:

Many patients with inherited sight-impairing eye conditions will also benefit from low vision devices and services. Our doctors are also trained in low vision management and can discuss with you your options. More information can be found on our Low Vision Clinic page.

Feel free to contact our clinic for more information.