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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 support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

When to consider this test

Patient selection

  • U.S. healthcare provider treating a patient with clinical signs or suspicion of an inherited retinal disease, including RP, CRD, LCA, Stargardt disease, or related IRDs.
  • OR provider evaluating an asymptomatic individual with a documented familial variant in a panel gene.
  • OR provider evaluating an asymptomatic individual with a family history of an inherited retinal disease and no previous genetic testing.

Workflow

How to use this program

  1. 1

    Submit an order

    Place the order online or via paper TRF. Include the patient’s insurance information for benefits investigation.

  2. 2

    Collect specimen

    Collect a blood, buccal, or saliva specimen using a Labcorp kit and follow standard collection procedures.

  3. 3

    Receive results

    Turnaround time is typically 10–21 days from specimen receipt. Results will be available through your Labcorp portal.

Billing overview

Program billing

For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.

Quality & privacy

Laboratory quality & data handling

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

Frequently asked questions

Which patients are appropriate for this program?

U.S. patients with clinical signs or suspicion of inherited retinal disease—including RP, CRD, LCA, Stargardt disease, or other IRDs—as well as asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene.

What does the panel test for?

The Invitae Inherited Retinal Disorders Panel evaluates genes associated with nonsyndromic and syndromic IRDs, supporting diagnosis and informing management.

Is there any cost to providers or patients?

Insurance will be billed when applicable. If insurance does not cover testing or eligibility criteria are not met, the patient may qualify for sponsored no-charge testing. De-identified patient and clinician information may be shared with third parties regardless of billing route.

What sample types are accepted?

The test typically requires blood or saliva, depending on the lab’s protocols.

What is the expected turnaround time?

Most results are returned in 10–21 days after receipt of the specimen.

How should results be used?

Results can support diagnosis, refine prognosis, assess recurrence risk, and guide genetic counseling or referral to retinal specialists. They may also help identify candidates for ongoing 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

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Invitae | Labcorp

Available in: United States

Order testPrint requisitionOrder collection kitLearn more

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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

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