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
The Invitae Unlock Inherited Retinal Disease Program offers U.S. clinicians a single-order, 330-gene panel spanning core and syndromic inherited retinal disorders, including RP, CRD, LCA, Stargardt disease, and related phenotypes. Testing is appropriate for symptomatic patients as well as asymptomatic individuals with a relevant family history or a known pathogenic variant, supporting diagnosis, risk stratification, and therapeutic decision-making. The test is billed to insurance; when a claim is denied or the patient is uninsured, the program sponsor covers the cost of testing, removing a common access barrier.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Resides in the United States
- Patient does not have age-related macular degeneration (AMD)
- Suspected of having an inherited retinal disease based on at least one of the following:
- Symptomatic individual with a clinical diagnosis 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 a known disease-causing variant in one of the genes on the Invitae Inherited Retinal Disease Panel
- Asymptomatic individual with a family history of an inherited retinal disease with no previous genetic testing
Workflow
How to use this program
- 1
Submit an order
Place the order online or via paper TRF. Include the patient’s insurance information for benefits investigation.
- 2
Collect specimen
Collect a blood, buccal, or saliva specimen using a Labcorp kit and follow standard collection procedures.
- 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 the Invitae Unlock Inherited Retinal Disease Program?
The Invitae Unlock Inherited Retinal Disease Program is designed for patients with a clinical suspicion of an inherited retinal disease, including retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, Stargardt disease, and other core or syndromic IRDs. It is also appropriate for asymptomatic individuals who have a family history of IRD or a known pathogenic variant in a relevant gene, if they meet the program's eligibility criteria. Ordering clinicians can use the program to support diagnostic workup, risk assessment, and management planning.
What genes and conditions does the Invitae Inherited Retinal Disorders Panel cover?
The Invitae Inherited Retinal Disorders Panel analyzes 330 genes associated with inherited retinal diseases, covering both core IRDs and syndromic IRDs in a single test. This breadth allows comprehensive evaluation across the heterogeneous IRD spectrum without the need to order multiple sequential panels. Testing is performed via next-generation sequencing by Invitae at Labcorp.
What specimen types are accepted for the Invitae Unlock IRD panel and what is the turnaround time?
The Invitae Inherited Retinal Disorders Panel accepts whole blood, saliva, buccal swab, or extracted gDNA. Turnaround time is 10 to 21 days from specimen receipt. Collection kits can be ordered through the Invitae platform, and multiple specimen options allow flexibility for pediatric or remote-access patients.
How is the Invitae Unlock Inherited Retinal Disease Program billed and does ordering obligate the clinician?
The Invitae Unlock Inherited Retinal Disease Program bills the test to the patient's insurance first. If the claim is denied or the patient is uninsured, the program sponsor covers the cost of testing. For approved claims, testing is processed under the patient's plan, and any cost-sharing questions should be directed to the patient's insurance or care team. Ordering through Invitae Unlock carries no purchase or prescribing obligation.
Is genetic counseling support available through the Invitae Unlock IRD testing program?
Yes, the Invitae Unlock Inherited Retinal Disease Program provides access to genetic counseling services to support result interpretation, patient communication, and family cascade considerations. Clinicians and patients can consult with Invitae's genetic counselors for guidance on findings, variant classification, and next steps, which can be particularly useful for complex or syndromic presentations.
Is the Invitae Unlock Inherited Retinal Disease Program available outside the United States?
The Invitae Unlock Inherited Retinal Disease Program is currently available to clinicians and patients in the United States only. Providers outside the U.S. should contact Invitae directly for information on alternative access options or international testing availability.
Which patients are eligible for Invitae Unlock Core IRDs genetic testing?
Patients may qualify for Invitae Unlock if they meet the program's eligibility criteria:
- 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.
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