Inherited Retinal Disease

Sponsored, no-charge genetic testing for individuals suspected of or at risk of having an inherited retinal disease (IRD) either from clinical symptoms or family history.








What are IRDs?
Inherited retinal diseases (IRDs) are a genetically and clinically heterogeneous group of disorders characterized by loss of photoreceptor function and a major cause of severe vision loss or blindness.1
Prevalence of IRDs
The incidence of IRDs is estimated to be 1:2000 and the leading cause of vision loss between the ages of 15 and 45.1

IRDs can present in various forms:

  • Retinitis pigmentosa (RP) is the most common presentation. RP typically presents with night blindness followed by constriction of peripheral visual fields, which leads to tunnel vision and eventually loss of central vision.2 
  • Patients with cone-rod dystrophies (CRD) experience decreased visual acuity, photophobia, nystagmus and progressive loss of color perception. Onset for CRD is typically in early childhood or adolescence.3,4
  • Leber congenital amaurosis (LCA) is a severe retinal disease with early onset and is characterized by early vision loss in infancy, absent or sluggish pupillary response, and severely abnormal or absent ERG response.5,6
  • Extra ocular involvement that may require additional medical management can also present in individuals with an underlying genetic syndrome with features that include but are not limited to renal disease, developmental delay or intellectual disability, hearing loss, ataxia, laterality defects and abnormalities of the skeletal, cardiac and genitourinary systems.

Invitae Inherited Retinal Disease sponsored testing can help:

  • Confirm a suspected diagnosis
  • Provide treatment guidance
  • Support enrollment in precision therapy clinical trials 
  • Determine which relatives may be at risk

About the Inherited Retinal Disease genetic testing program

Program eligibility

This program is available to individuals living in eligible countries suspected of having an inherited retinal disease based on one or more of the following:
  • Symptomatic individual with clinical diagnosis or suspicion of one of the following:
    • Retinitis pigmentosa (RP)
    • Cone Rod Dystrophy (CRD)
    • Leber congenital amaurosis (LCA)
    • Stargardt disease (STGD)
    • Other inherited retinal disease
  • Symptomatic individual with suspicion of an inherited retinal disease 
  • Asymptomatic individual with a family history of known disease-causing variant in one of the genes included on the Invitae Inherited Retinal Disorders Panel
  • Asymptomatic individual with a family history of an inherited retinal disease with no previous genetic testing

*Note: This program is not appropriate for patients with age-related macular degeneration.

Countries of availability

  • Argentina
  • Australia
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Mexico

Genetic testing with Invitae

The Invitae Inherited Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.


How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the paper order form (English | Portuguese | Spanish) and include it in the specimen box. 

2. Collect a specimen

Australian and Canadian clinicians can order a blood, buccal, or saliva collection kit here. Clinicians in other eligible countries should refer to the country-specific section below for instructions on how to order a specimen collection kit in their region. 
Please view specimen and shipping requirements for important information. If you chose to do a paper-based order, include the completed paper order form in the box with the specimen.

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Country-specific program materials:

Australia and Canada:
Test Requisition Form (English)
Informed Patient Consent (English -  Outside US)
Program Flyer (English)

Formulário de Solicitação em papel (Português)
Formulário de Consentimento Informado do Paciente (Português)
Folheto/Panfleto do Programa e Instruções para Pedidos no Brasil (Português)

Argentina, Chile, Colombia, Mexico:
Formulario de Solicitud de Prueba (Español)
Consentimiento Informado del Paciente (Español)
Folleto del Programa y Instrucciones de Pedido (Español)

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
Inherited Retinal Disease includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add rerequisition”

Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.

Are you a patient?

Discuss the program with your doctor

If you already have a healthcare provider who can place this order, you can donwload this flyer (English | Portuguese | Spanish) to take to your own provider.

Support every step of the way

Client Services

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

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

Genetic counseling

Individuals in Canada tested through this program are eligible for post-test sponsored genetic counseling to help them understand their test results.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website.