Invitae Inborn Errors of Immunity and Cytopenias Panel
Comprehensive panel evaluating genes tied to inherited immune disorders, including cytopenias, bone marrow failure, and hereditary lymphoma.
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 Immunology program provides sponsored access to the Invitae Inborn Errors of Immunity and Cytopenias Panel, a 574-gene NGS assay spanning combined immunodeficiencies, immune dysregulation syndromes, and bone marrow failure or cytopenia-related disorders. For patients whose insurance denies the claim or who are uninsured, Invitae (Labcorp) covers the cost of testing, removing a common barrier to comprehensive genomic workup in this population. Ordering carries no prescribing or purchase obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Resides in the United States
- Clinical suspicion for an inborn error of immunity, including primary immunodeficiencies and primary immune regulatory disorders
- One or more of the following criteria:
- Hematological, immunological, lymphoid, rheumatologic
- Athymia
- Autoimmune hemolytic anemia / autoimmune cytopenia / immune thrombocytopenia
- Autoinflammatory condition
- Bone marrow hypocellularity
- Bone marrow failure
- Hemophagocytosis
- Lymphadenopathy
- Lymphoma (specify age and cell type)
- Leukemia (specify age and cell type)
- Myelokathexis
- Opportunistic infections (list)
- Recurrent infections (bacterial, fungal, or viral)
- Recurrent/periodic fevers
- Rheumatoid arthritis, juvenile onset
- Poor response to treatment for infections
- Severe combined immunodeficiency (SCID)
- Usually mild childhood disease which has worsened or has become life-threatening
- Dermatology
- Telangiectasias
- Recalcitrant warts
- Molluscum, severe
- Severe, recurrent skin infections
- Scleroderma
- Pulmonary
- Bronchiectasis
- Interstitial lung disease
- Pulmonary fibrosis
- Gastrointestinal
- Chronic hepatomegaly
- Chronic splenomegaly
- Very early onset inflammatory bowel disease, onset <6 yrs of age
- Protein-losing enteropathy
- Laboratory
- Abnormal immunoglobulins
- Abnormal oxidative burst
- Abnormal response to vaccines
- Abnormal T cell proliferation
- Abnormal T cell subsets
- Absent/low TRECs on SCID newborn screening
- Absent perforin staining
- Agammaglobulinemia/hypogammaglobulinemia
- Autoimmune hemolytic anemia
- Elevated levels of immunoglobulin M
- Increased chromosomal breakage
- Increased inflammatory markers (specify type)
- Increased interleukin-2 soluble receptor alpha (IL2Ra)
- Increased activated T cell number
- Low pneumococcal vaccine titers
- Neutropenia
- Oligoclonal T cells
- Pancytopenia
- Reduced B cell subset(s) (specify type)
- Reduced number of T cells
- Short telomere length
- Thrombocytopenia
- Transplacentally acquired maternal engraftment of T cells
- Family history: relative with an inborn error of immunity and positive genetic test results
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 Immunology sponsored immunodeficiency panel?
The Invitae Unlock Immunology program is available to eligible U.S. patients presenting with clinical signs suggestive of inborn errors of immunity or cytopenias. Relevant indications include, among others, absent or low TRECs on SCID newborn screening, agammaglobulinemia or hypogammaglobulinemia, abnormal T cell subsets or proliferation, neutropenia, pancytopenia, thrombocytopenia, short telomere length, increased chromosomal breakage, and autoimmune hemolytic anemia. Patients must meet the program's eligibility criteria; full criteria are outlined on the program's ordering page.
What does the Invitae Inborn Errors of Immunity and Cytopenias Panel cover?
The panel interrogates 574 genes via NGS, encompassing immunodeficiencies, immune dysregulation, and bone marrow and blood disorders in a single assay. This breadth allows comprehensive evaluation without sequential single-gene or smaller panel orders. The test is performed by Invitae (Labcorp).
How is billing handled for the Invitae Unlock Immunology program?
The Invitae Unlock Immunology program bills the patient's insurance as the primary payer. If the claim is denied or the patient is uninsured, Invitae (Labcorp) covers the cost of testing under the program's sponsorship. For approved claims, standard plan processing applies, and any cost-sharing questions should be directed to the patient's insurance carrier. Ordering through this program carries no prescribing or purchase obligation.
What specimen types and turnaround time apply to the Invitae immunodeficiency and cytopenias panel?
The Invitae Inborn Errors of Immunity and Cytopenias Panel accepts whole blood, saliva, buccal swab, or extracted gDNA. Turnaround time is 10 to 21 days from specimen receipt. Collection kits can be requested through Invitae's ordering portal or via paper requisition.
Is genetic counseling support available when ordering through the Invitae Unlock Immunology program?
Yes, the Invitae Unlock Immunology program includes access to genetic counseling resources. Invitae's genetic counselors are available to support both pre-test and post-test discussions, including variant interpretation and management implications. Additional clinical resources such as gene-specific management guides and educational webinars are also available through Invitae.
Does ordering through the Invitae Unlock Immunology program create any prescribing or purchase obligation?
No. Ordering through the Invitae Unlock Immunology program, sponsored by Invitae (Labcorp), carries no prescribing, purchase, or referral obligation of any kind. The program is designed to remove financial barriers to comprehensive genetic evaluation for inborn errors of immunity and cytopenias in eligible U.S. patients.
Which patients are eligible for Invitae Unlock Immunodeficiencies genetic testing?
Patients may qualify for Invitae Unlock if they meet the program's eligibility criteria:
- Patient resides in the United States.
- Patient has a clinical suspicion for an inborn error of immunity (IEI), including primary immunodeficiencies or primary immune regulatory disorders.
- See full list of qualifying clinical presentations.
See an issue with this program?