Why consider genetic testing?
Genetic testing is used to identify gene variants known to cause certain eye problems. Testing may be helpful to confirm a diagnosis suspected on clinical findings. Knowing the causative gene may also be helpful to better understand the inheritance pattern in order to inform other family members and to assist with family planning. Finally, much research and progress have been made in the treatment of inherited eye disease.
What tests are available?
There are a number of options when it comes to genetic testing. In general, it is better to order specific test panels rather than testing all of the genes (whole-exome sequencing). For example, there are tests geared to identify specific inherited retinal diseases (IRD) with a high degree of accuracy.
Who pays for genetic testing?
Insurance companies generally do not cover the cost of genetic testing. The cost of testing is variable depending on the lab and the scope of the tests. For example, Molecular Vision Lab charges $650 for a test panel of 1024 genes looking for inherited retinal disease.
How can I get genetic testing?
If your ophthalmologist suspects an inherited retinal disease, he/she may order testing. The type of test will depend on the diagnosis under consideration. If you are a resident of the United States and have not had prior testing, you may be eligible for testing at no charge. However, you may be asked to participate in a program in which you may be contacted by researchers. Certainly, you may choose to keep your personal information private.
Over time, I anticipate genetic testing will become more readily available and the cost will be covered by insurance. The treatment and cure of some inherited retinal diseases is now a reality, and the future holds the promise of further progress with continued research.
For a telemedicine consultation with Dr Pautler, please send email request to spautler@rvaf.com. We accept Medicare and most insurances in Florida. Please include contact information (including phone number) in the email. We are unable to provide consultation for those living outside the state of Florida with the exception of limited one-time consultations with residents of the following states: Alabama, Arkansas, Connecticut, Georgia, Minnesota, and Washington.
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