Ketchum Health offers genetic testing for many eye conditions, including inherited retinal diseases 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
- Cone dystrophy
- Leber congenital amaurosis
- Retinitis pigmentosa
- Stargardt disease
- Usher syndrome
- X-linked retinoschisis
- And many more inherited eye diseases and syndromic conditions
We can screen over 300 different genes known to be associated with inherited eye conditions.
Genetic testing procedure:
Sample collection for genetic testing can be conveniently conducted in-office with a saliva sample or cheek swab, though blood sample testing is also available when needed.
Prior to testing, 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 help determine your eligibility for funded genetic testing programs, which can greatly reduce the cost of testing and may be able to fully cover the cost of the genetic testing lab fees.
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.