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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

This program provides no-cost genetic testing for individuals in the United States who may have an inherited retinal disease such as retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, Stargardt disease, or related conditions. Testing can also support individuals with a family history of an inherited retinal disorder or a known genetic variant.

Who this may help

Could this be right for you or your family?

  • 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.

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 this testing program for?

This program helps identify genetic causes of inherited retinal diseases such as retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, Stargardt disease, and related conditions.

Who is eligible?

Patients in the U.S. who have symptoms or a clinical suspicion of an inherited retinal disease—or those with a family history of IRD or a known disease-causing variant.

How much does the test cost?

Labcorp will determine whether the test is covered by insurance. If it is not covered—or if you do not meet your insurer’s criteria—you may be eligible for sponsored, no-charge testing. De-identified patient and clinician information may be shared with third parties regardless of billing method.

How is the test performed?

Your provider orders the test, and a blood or saliva sample is collected depending on what the lab requires.

How long does it take to get results?

Results are typically available in 10–21 days after the lab receives the sample.

What can the results tell me?

Results may help explain the cause of your retinal condition, clarify prognosis, guide family planning, and support eligibility for clinical trials.

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.

Other Tests in This Program

Invitae Primary Immunodeficiency Panel

Invitae Unlock™•Invitae | Labcorp

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae Unlock™•Invitae | Labcorp

Invitae Epilepsy Panel

Invitae Unlock™•Invitae | Labcorp

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Invitae Unlock™•Invitae | Labcorp

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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