An exam with a retinal or IRD specialist provides you with important baseline information about your disease. It could also generate a clinical diagnosis, if you don’t have one already, which may help narrow the search for your mutated gene.
Meet with a genetic counselor.
Even if you’ve met with a genetic counselor before, you may want to do so again because science is always changing. A genetic counselor can help you understand the importance of identifying the genetic cause of your disease.
Provide a sample.
Once your doctor orders the test, he or she will collect a saliva or blood sample and send it off to the genetic testing lab. To provide a blood sample, expect the same kind of simple blood draw that is done for any other kind of common blood test.
Discuss the results.
It can take several months to receive the results from your genetic test. Discussing the results with a genetic counselor or a health care professional will provide you the insight needed to determine your next steps.