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Ophthalmology / GeneticsCore IRDs+Syndromic IRDs+

Invitae Inherited Retinal Disorders Panel

Analyzes genes linked to inherited retinal disorders such as RP, cone-rod dystrophy, and LCA to support diagnosis, clarify genetic causes, and guide counseling.

Accessed through the Invitae Unlock™ Sponsored Testing Program•Sponsored by Invitae | Labcorp•Performed by Invitae | Labcorp

Designed to help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

If you or your child is experiencing unexplained vision loss, or if inherited retinal disease runs in your family, getting a genetic answer can be a turning point. Conditions like retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, and cone-rod dystrophy each have a genetic basis, and identifying the specific gene involved can open the door to better management and emerging treatments. The Invitae Unlock Inherited Retinal Disease Program gives eligible patients in the United States access to a broad genetic test that looks across 330 genes linked to inherited retinal diseases, and the program's sponsor steps in to cover the cost of testing if your insurance denies the claim or if you do not have insurance.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • The patient lives in the United States
    • The patient does not have age-related macular degeneration (AMD)
    • The patient may have an inherited retinal (eye) disease — at least one of the following applies:
      • Has symptoms and a doctor's diagnosis of one of these inherited retinal diseases:
        • Retinitis pigmentosa (RP)
        • Cone Rod Dystrophy (CRD)
        • Leber congenital amaurosis (LCA)
        • Stargardt disease (STGD)
        • Another inherited retinal disease
      • Has symptoms and the doctor suspects an inherited retinal disease
      • Has no symptoms, but a family member carries a known disease-causing gene change in one of the genes on the Invitae Inherited Retinal Disease Panel
      • Has no symptoms, but there is a family history of an inherited retinal disease and no previous genetic testing

What to expect

How the process works

  1. 1

    Submit an order

    Your healthcare provider will place the genetic test order online or using a paper form and include your insurance information.

  2. 2

    Collect specimen

    You’ll provide a blood, saliva, or cheek swab sample using a collection kit.

  3. 3

    Receive results

    Results are typically available 10–21 days after the lab receives your sample. Your provider will review them with you.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Common questions about this program

What is the Invitae Unlock Inherited Retinal Disease Program and what does it test for?

The Invitae Unlock Inherited Retinal Disease Program provides access to the Invitae Inherited Retinal Disorders Panel, a comprehensive genetic test that analyzes 330 genes associated with inherited retinal diseases. It covers a wide range of conditions including retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, Stargardt disease, and other core and syndromic inherited retinal disorders. The program is available to eligible patients in the United States who have symptoms of an inherited retinal disease, a family history of one, or a known genetic variant in a related gene.

Is genetic testing for inherited retinal diseases through Invitae Unlock really free, and who pays for it?

The Invitae Unlock Inherited Retinal Disease Program is not automatically free for every patient. The test is first billed to your insurance. If your insurance denies the claim, or if you are uninsured, the program's sponsor covers the cost of testing so you are not left with a bill in those situations. If your insurance approves the claim, it is processed under your plan as usual, and you can talk with your care team about any cost-sharing questions.

What kind of sample is needed for inherited retinal disease genetic testing through Invitae Unlock?

The Invitae Unlock Inherited Retinal Disease Program accepts several sample types, including a simple blood draw, a saliva sample, or a buccal swab (a gentle cheek swab). Your ordering clinician will help you choose the option that works best for your situation. The process is straightforward and does not require any specialized procedure.

How long does it take to get results from the Invitae Inherited Retinal Disorders Panel?

Results from the Invitae Inherited Retinal Disorders Panel are typically available within 10 to 21 days after the lab receives your sample. Your healthcare provider will review the results with you and explain what they mean for your care. If you have questions while you wait, your care team or a genetic counselor can help.

Is genetic counseling available through the Invitae Unlock inherited retinal disease testing program?

Yes, the Invitae Unlock Inherited Retinal Disease Program provides access to genetic counseling to help you understand your results and what they mean for you and your family. Genetic counselors can walk you through the findings, answer your questions, and help guide next steps. This support can be especially valuable when results identify a specific gene variant or when family members may benefit from testing too.

Who should consider genetic testing for inherited retinal diseases like retinitis pigmentosa or Stargardt disease?

The Invitae Unlock Inherited Retinal Disease Program may be appropriate for people who have symptoms of an inherited retinal disease such as retinitis pigmentosa, Stargardt disease, Leber congenital amaurosis, or cone-rod dystrophy. It is also designed for individuals who have a family history of an inherited retinal disorder or who carry a known pathogenic variant in a related gene, even if they do not yet have symptoms. Your eye doctor or healthcare provider can help you decide whether this testing is right for you.

Who qualifies for Invitae Unlock Core IRDs genetic testing?

Patients may qualify for Invitae Unlock if they meet the program's eligibility criteria:

  • Resides in the United States.
  • Has symptoms or a clinical suspicion of an inherited retinal disease (e.g., retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, Stargardt disease).
  • OR has a family history of a known disease-causing variant in a gene on the Invitae Inherited Retinal Disorders Panel.
  • OR has a family history of an inherited retinal disease without prior genetic testing.

Test details

  • Conditions
    Core IRDs, Syndromic IRDs
  • Test typeLarge NGS Panel
  • Test code72100
  • Genes / markers
    330
  • Key genes / markersABCA4, RHO, RPGR, USH2A, CRB1, RPE65, BEST1, CEP290, CNGA3, CNGB3, GUCY2D, MERTK, PROM1, PRPH2, PDE6A, PDE6B
  • SpecimenWhole blood•Saliva•Buccal swab•gDNA
  • Turnaround time10-21 Days
  • LabInvitae | Labcorp
  • Program regionUnited States

Next steps

Share this information with your ophthalmologist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Invitae | Labcorp.

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Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

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Invitae Primary Immunodeficiency Panel

Invitae Unlock™•Invitae | Labcorp

Invitae Inborn Errors of Immunity and Cytopenias Panel

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Questions to ask your doctor about Invitae Inherited Retinal Disorders Panel

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

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