Genetic Testing Frequently Asked Questions
Who is eligible for testing?
- The person is clinically diagnosed with one of the inherited retinal degenerative diseases listed below in Eligible Diagnoses.
- The person lives in the USA.
- The person has not had any of the following types of genetic testing since 2016:
- A test that examined more than 32 IRD-related genes
- A whole exome genetic test
- A whole genome genetic test
- The person does not solely have any of the following diagnoses:
- Age-related macular degeneration
- Optic neuropathy
- Cornea/anterior chamber disease
- Diabetic eye disease
- Non-genetic ocular or retinal damage diagnosis not listed in the requisition.
Please note, this test is not suitable for, and should not be used to, screen for eye diseases in general, it is only for use in identifying the causative gene for a confirmed clinical diagnosis of an IRD.
Is the Program Free?
There is no out of pocket cost for the genetic test or the associated genetic counseling. The costs of the test and counseling, which are well over $2,000 carry no cost to the participant. There is no charge to your health insurance company.
However, participants will need to cover any cost of a clinical consultation and related exams that an enrolling physician may decide are necessary before they can order the test.
What if I recently had a genetic test?
If you have had a genetic test panel consisting of 32 or more genes in the last four years, you are not eligible for the testing sponsored by the My Retina Tracker Genetic Testing Program. You should discuss alternatives with your physician or genetic counselor.
What genes does the Blueprint panel test for?
The Blueprint genetic test for individuals with a clinical diagnosis of an inherited retinal disease is a comprehensive 322 gene panel test that will examine most of the genes and variants currently known to cause an inherited retinal dystrophy.
Will my personal information be shared with third parties?
No personally identifying information – name, address, date or birth, email or any other contact information – is released from the My Retina Tracker® Registry (MRTR) to outside entities.
If the de-identified information in your MRTR profile surveys indicate you as a person of interest to an investigator, you will be contacted by the Foundation’s Registry team. Then it will be up to you to identify yourself to the investigator if you are interested in their study.
Can my family member also be tested through the program?
Because of limited resources, the current goal of the My Retina Tracker Genetic Testing Program is to sponsor genetic testing for one affected person (proband) in a nuclear family.
If a disease-causing variant is identified in the proband testing, other affected or at-risk family members can be tested for that variant through Blueprint’s Familial Variant Testing at the request of their physician. Payment for such testing would be the responsibility of the family member either through insurance or directly out of pocket. The value of familial variant testing should be discussed with your eye healthcare provider or genetic counselor.
I never received a call from InformedDNA, what do I do?
You will be contacted by InformedDNA if your eye healthcare provider referred you to them for genetic counseling at the time they requisitioned your genetic test.
If you haven’t received a call, you can call InformedDNA at 800-975-4819 to see if they have a referral for you.
I don’t have a computer or internet, how can I sign on the My Retina Tracker Registry?
For assistance, please contact Cindy Smith, science database assistant via email at Coordinator@MyRetinaTracker.org,or by calling 410-423-0594 or 800-683-5555, ext. 1594.