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Genetic Testing

Genetic testing is an extremely important process in the management of inherited retinal dystrophies. Finding the exact gene that causes your disease not only confirms the diagnosis, but can give much information about the prognosis  and inheritance specific to your case. This can very important when it comes to planning for the future (i.e. family and occupational planning). Furthermore, gene replacement therapy is now being tested in many retinal diseases and a genetic diagnosis is crucial to determine whether or not a treatment is compatible for you.

When you visit our clinic for an appointment, we draw blood samples from you in order to perform genetic testing. These tests may often take time however, as there are limited research funds which are available to perform the testing. This may mean that results might take many weeks or even months to obtain. If you wish to expedite the genetic testing process, there are several trusted centers that offer testing for a price (see instructions below). You can find the required forms on the websites below, and you will have to obtain blood samples to include with your request. Once you have the results, we can help you interpret them and continue with the appropriate care. If you are ever unsure about the testing process feel free to ask!

Instructions for genetic testing (private):

Step 1: Choose a testing center

1. Asperbio - www.asperbio.com

2. GeneDx - www.genedx.com

3. Casey Eye Institute

Step 2: Know your diagnosis (this lets the centers know what genes to test for)

You can consult the handout which you received from Dr. Koenekoop

Step 3: Get a blood sample taken

You will need to provide/send a blood sample to do the genetic testing. You can have your sample drawn at your local CLSC or clinic. To send blood samples for genetic testing you will need to have 3 (lavender top coloured) tubes of blood drawn. Label the samples with your name and keep them in a plastic box. These can be kept for a week in your refrigerator. When you send your samples they do not need to be in a refrigerated box. 

Step 4: Filling the required forms

Download the forms from the website of the testing center that you have picked. You can fill out most of it but the form will have to be signed by Dr. Koenekoop. 

Step 5: Send the completed and signed forms, samples, and payment as directed by the instructions on the website. 

Step 6: Results

When you get your results you can bring them to Dr. Koenekoop and he will help you interpret them