My Retina Tracker® genetic testing program

ProQR partnered with the Foundation Fighting Blindness in offering an open access, no-cost genetic testing program called the My Retina Tracker Program®. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). Eligibility criteria are listed below.

All precision medicine for IRDs including RNA therapies begin with knowing the specific mutations underlying the disease. Retina specialists informed us of the genetic testing barriers that remain which are the cause of significant challenge for patients. This is why we have decided to support the My Retina Tracker program.

The genetic test is performed by Blueprint Genetics and healthcare providers can order the test from their My Retina Tracker Program webpage.

Why should someone with an IRD get genetic testing?

Genetic testing may confirm a clinical diagnosis or clarify a diagnosis that was previously unclear. A confirmed genetic diagnosis:

  • May help understand prognosis and guide medical management
  • May provide access to an existing therapy or an ongoing clinical trial
  • May help family members understand their own risks and assist with family planning
  • May provide access to appropriate support services such as patient advocacy organizations
  • Will increase our knowledge of the prevalence of the specific gene variants that cause an IRD, which is key data in the understanding of the IRD and the development of therapeutics

For people living with an IRD

How can I get a genetic test?

  • To get started, please talk to your doctor about the program.
  • Your healthcare provider will confirm that your retinal disease matches the list of diagnoses covered by this program.
  • The genetic test needs to be ordered by a healthcare professional. We cannot order the test for you.
  • Your doctor will explain the study then ask you to sign Informed Consent Form for the testing to begin.
  • After receiving your sample and the required paperwork, Blueprint Genetics will begin the test.
  • Your healthcare provider will get your genetic test results within ~4 weeks.

Who is eligible for genetic testing in the My Retina Tracker program?

The person is clinically diagnosed with one of the inherited retinal degenerative diseases listed at the bottom of the page.
  • The person lives in the USA.
  • The person has not had any of the following types of genetic testing since 2016: 1) a test that examined more than 32 IRD-related genes; 2) a whole exome genetic test; 3) a whole genome genetic test.
  • The person does not solely have any of the following diagnoses: 1) age-related macular degeneration; 2) Glaucoma; 3) Optic neuropathy; 4) Cornea/anterior chamber disease; 5) Diabetic eye disease; 6) 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.

For all details regarding the program visit the Blueprint Genetics website.

For healthcare professionals

Why should I order a genetic test for my patient?

  • The program is based on an existing My Retina Tracker Registry study that has been developed and utilized by leaders in the field of IRD genetics and therapeutics.
  • To date, over six thousand people with IRD have participated in this program, leading to a powerful genotype/phenotype database, and experienced genetic counselors to help guide your patients through the testing process.
  • The genetic test represents the best IRD diagnostic panel on the market today. It includes excellent coverage of the essential RPGR gene, including the ORF15 difficult to analyze region, high-resolution copy number variant (CNV) detection and known disease-causing non-coding variants.
  • Eligible individuals also receive no-charge genetic counseling through InformedDNA whose genetic counselors are experienced in providing genetic test interpretation and counseling to thousands of patients with IRD in comprehensive, individualized sessions.
  • Your patient has the opportunity to enroll in the Foundation Fighting Blindness My Retina Tracker Registry during the counseling session and in doing so support research, development in the field of IRD diagnostics, and have the opportunity of being contacted about relevant clinical trials.

How do I order the My Retina Tracker test for my IRD patient?

The no-cost My Retina Tracker panel can be ordered from the Blueprint Genetics website following the steps below.
  • To place the order, login to Nucleus, Blueprint Genetics' ordering platform. If you are a new user, create an online account free-of-charge.
  • Select medical specialty “Ophthalmology” and then select “My Retina Tracker” Program panel.
  • Fill in the requisition form and submit. A printed copy of the order is not required.
  • Provide Blueprint Genetics the Sponsored Genetic Testing Informed Consent form signed by the patient (upload into Nucleus, fax or send with the patient sample).
  • For further assistance, please contact support.us@blueprintgenetics.com.

Inherited retinal diseases: Eligible diagnoses

  • achromatopsia
  • adult foveomacular vitelliform dystrophy
  • Alstrom disease
  • Bardet-Biedl syndrome (Laurence-Moon syndrome)
  • Best disease
  • Bietti crystalline corneoretinal dystrophy
  • choroidal dystrophy
  • choroideremia
  • cone dystrophy
  • cone monochromacy
  • cone-rod dystrophy
  • congenital stationary night blindness
  • fundus albipunctatus
  • fundus flavimaculatis
  • Goldman-Favre vitreoretinal dystrophy (enhanced s-cone syndrome)
  • Gyrate atrophy
  • Jalili syndrome
  • late-onset retinal degeneration (L-ORD)
  • Leber congenital amaurosis
  • macular dystrophy – juvenile inherited only
  • pattern dystrophy
  • Refsum syndrome
  • retinitis pigmentosa
  • retinitis pigmentosa atypical
  • retinitis punctata albescens)
  • retinoschisis – juvenile
  • rod dystrophy
  • rod monochromacy
  • Stargardt disease
  • Usher syndrome unspecified
  • Usher syndrome – type I
  • Usher syndrome – type II
  • Usher syndrome – type III
The logos of the My Retina Tracker collaboration: Foundation Fighting Blindness, Blueprint Genetics, InformedDNA and ProQR Therapeutics