ID YOUR IRD®

NO-CHARGE* GENETIC TESTING FOR INHERITED RETINAL DISEASES (IRDs)

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No-charge* IRD genetic testing program

Invitae is offering a genetic testing program sponsored by Spark Therapeutics at no charge for individuals suspected of having an IRD. This program provides access to a broad IRD genetic panel that tests approximately 250 genes for variants that are known to cause IRD.
*Subject to terms and conditions of program. The patient is responsible for any other costs that may be incurred as a result of participating in the program. Including, but not limited to, the costs of visits or consultations with their healthcare professional in connection with the genetic test or the testing results.

Program eligibility

This gene testing initiative is appropriate for patients suspected of having an inherited retinal disease (e.g., retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, etc.) and who have experienced one or more of the following:

  • Peripheral field loss
  • Nyctalopia
  • Deterioration in color vision
  • Central vision loss
  • Photophobia 

Note: This program is not appropriate for patients with age-related macular degeneration or ocular/oculocutaneous albinism.

Benefits of testing

The benefits of genetic testing include the ability to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and help prevent misdiagnosis
  • Help patients consider clinical trials
  • Provide information about support services such as patient advocacy organizations
Learn more about IRD diagnosis and care

Invitae Inherited Retinal Disease (IRD) Panel

The Invitae Inherited Retinal Disease Panel tests approximately 250 genes for variants that are known to cause IRD. Once Invitae receives the sample, you will receive results within 10 to 21 calendar days, on average.

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Place your order

The ID YOUR IRD program only accepts paper orders. To place an order, download the paper order form.

To collect a specimen:

  1. Order a specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. For additional information, please see specimen and shipping requirements
  4. Include the paper order form with your sample and please ensure that the patient consent form is signed

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10 to 21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

Support every step of the way

Client services

Available to answer your questions or help you through the testing process.

CONTACT

Sponsored genetic counseling

Individuals tested through ID YOUR IRD are eligible for post-test genetic counseling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program.

To schedule a genetic counseling appointment, please contact GeneMatters at 1-866-741-5331 or schedule online at www.gene-matters.com using partner code: SPARK.

More information for clinicians

Clinicians with questions about their patient's Invitae test result can call Invitae at (800) 436-3037 and ask to speak with a genetic counselor.

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More information for your patients

Patients must have a copy of their Invitae test report to provide to GeneMatters at the time of scheduling.

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Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Sample options: blood and saliva kits provided free of charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.

About Spark Therapeutics

Spark Therapeutics — a fully integrated, commercial company committed to discovering, developing and delivering gene therapies — challenges the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases. We see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com, and follow us on Twitter and LinkedIn.

While Spark provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. In accordance with the terms and conditions of the program, patients must consent to disclose personally identifying information and genetic test results to Spark. Spark also receives contact information for healthcare professionals who consent and use this program. Genetic testing and counseling are available in the US only. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Spark product. Please review all terms and conditions of the program before submitting test samples.

Spark Therapeutics and ID YOUR IRD are trademarks or registered trademarks of Spark Therapeutics, Inc. in the United States.