Free Genetic Testing through My Retina Tracker
Blueprint Genetics in partnership with the Foundation Fighting Blindness and InformedDNA offers the My Retina Tracker Program®, which is an open access, no-cost genetic testing program for individuals living in the United States with a clinical diagnosis of an inherited retinal degeneration (IRD). The program provides individuals with an IRD access to a 285 gene panel targeting relevant genes associated with IRD, including the difficult to sequence RPGR gene. As part of this program, there is no-charge genetic counseling through InformedDNA, the leader in counseling individuals and families affected by IRDs. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry, which provides individuals the opportunity to contribute to research and the option to be contacted from the Foundation Fighting Blindness about relevant clinical trials. To get started, please talk to your doctor about the program.
Free Genetic Testing through Eye Want 2 Know
There are more than 260 genes known to cause these inherited retinal conditions, and the availability of genetic testing has opened doors and brought information and clarity to those living with one of these rare eye diseases.
With research efforts intensifying, it is more critical than ever to speak with your doctor about genetic testing. Today there are more than 100 recruiting, enrolling or active clinical studies for inherited retinal diseases on clinicaltrials.gov, the national resource housing information on all clinical studies across the country.
If you were previously tested more than five years ago and you didn’t receive a conclusive result – or any result at all – think about getting tested again. Genetic tests have improved, research is advancing, and a person may learn more from a newer test, especially with the identification of new genes.
Knowledge is power, and the more patients and the medical community know about specific gene mutations, the faster clinical trials may progress.
Free Genetic Testing through Project CHM
The Choroideremia Research Foundation is happy to announce that for a limited time, FREE genetic testing is available to anyone who has received a clinical diagnosis of CHM but has not undergone genetic testing. This has been made possible through funding by the CRF and a generous donation by PTC Therapeutics (www.ptcbio.com). Anyone interested in being part of a Clinical Trial or eventually being treated for CHM must have a Genetic Test confirming their CHM diagnosis.
To have free genetic testing performed through Project CHM, you can follow the following steps:
- Download the Project CHM Genetic Testing Voucher. The completed form will be sent with your patient’s blood sample.
- Complete the online request form at Carver Lab for your patient. For method of payment, select “Voucher”.
- Have a blood sample drawn and sent to the Carver Lab including the voucher.
- In an effort to increase insurance reimbursement for genetic testing, we are asking all Project CHM participants to submit their testing to their insurance company. Patients will receive an invoice from the Carver Lab marked PAID and should file this with their insurance carrier upon receipt.
- CRF is also asking all Project CHM patient participants to register with the CHM Patient Registry by clicking on your preferred language to register English, French, German, Portuguese, or Spanish– the Patient Registry takes less than 5 min to complete.
Physicians should receive results from the genetic testing within 3 months to share with their patients. If results have not been received within 3 months, please follow up with the Carver Laboratory.
If positive results are confirmed, as CHM is an inherited retinal disease, other family members should also be considered for testing.
Please note that the voucher expires on December 31, 2020. Subject to available funds, this program may be extended so feel free to check back after this date.
Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa to provide genetic testing for those affected with CHM. The Carver Laboratory is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM, and the CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.
If you have diagnosed any patients with Choroideremia, it is important to have the diagnosis confirmed through genetic testing. A genetic test is typically performed on a blood sample and identifies the specific genetic mutation in the CHM gene. A positive genetic test with a mutation in the CHM gene provides confirmation that your patient has CHM and not another similar retinal disease. Genetic testing is mandatory for those who want to be enrolled in a clinical trial or other research study on CHM.