What does a genetic test involve?
If you are interested in obtaining a genetic test, the first person to speak to is your ophthalmologist. You will usually need a referral from a general practitioner or optometrist before you can visit an ophthalmologist. They will be able to advise on whether a genetic test is suitable for you, and explain the potential costs, risks and benefits. If you would like to see another healthcare professional (i.e. a clinical geneticist, or a specialised ocular genetics clinic), your doctor can arrange a referral.
Before providing a sample for a genetic test, you will undertake counselling with either your doctor or a specialised genetic counsellor. They will inform you of the details of the process, and ask you to sign a form to acknowledge you consent to the procedure.
You will then be asked to supply a sample of either blood, saliva, or a cheek swab. The sample is then sent to a testing laboratory, where the genes of most likely involvement are tested.
The other information which is vital to genetic testing is knowledge of your family history. Before you start the process, it is important to find out if anyone else in your family has an IRD. You will be asked to provide this information to your doctor, as it helps them identify the most likely gene to test for.