Invitae Primary Immunodeficiency Panel
This test analyzes genes linked to primary immunodeficiency, immune dysregulation, and autoinflammatory disorders to support diagnosis and clinical care.
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
When someone in your family keeps getting serious infections, has unusual blood counts, or shows signs that their immune system is not working as it should, finding the root cause can feel overwhelming. The Invitae Unlock Immunology program offers a comprehensive genetic test that looks across 429 genes linked to primary immunodeficiencies, infection susceptibility syndromes, and immune dysregulation or autoinflammatory conditions. A single test can help your doctor pinpoint a genetic cause, guide treatment decisions, and let other family members know if they should be tested too. The test is billed to your insurance first, and if insurance denies the claim or you are uninsured, Invitae covers the cost of testing so you are not left with a surprise bill.
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
- A doctor suspects the patient has an inherited immune-system disorder (an inborn error of immunity), including primary immunodeficiencies and primary immune regulatory disorders
- The patient has at least one of the following:
- Blood, immune, lymph node, or joint findings
- Absence of the thymus gland (athymia)
- The immune system attacking the patient's own blood cells (autoimmune hemolytic anemia, autoimmune cytopenia, or immune thrombocytopenia)
- An autoinflammatory condition
- Low cell counts in the bone marrow (bone marrow hypocellularity)
- Bone marrow failure
- Overactive immune cells destroying blood cells (hemophagocytosis)
- Swollen lymph nodes (lymphadenopathy)
- Lymphoma (note age at diagnosis and cell type)
- Leukemia (note age at diagnosis and cell type)
- Infection-fighting white cells trapped in the bone marrow (myelokathexis)
- Opportunistic infections (please list them)
- Repeated infections (bacterial, fungal, or viral)
- Recurring or periodic fevers
- Juvenile-onset rheumatoid arthritis
- Infections that respond poorly to treatment
- Severe combined immunodeficiency (SCID)
- A usually mild childhood illness that has gotten worse or become life-threatening
- Skin findings
- Widened small blood vessels visible on the skin (telangiectasias)
- Warts that won't go away (recalcitrant warts)
- Severe molluscum (a skin infection)
- Severe, repeated skin infections
- Scleroderma (hardening of the skin)
- Lung findings
- Widened, damaged airways (bronchiectasis)
- Interstitial lung disease
- Scarring of the lungs (pulmonary fibrosis)
- Digestive (stomach/intestine/liver) findings
- Long-lasting enlarged liver (chronic hepatomegaly)
- Long-lasting enlarged spleen (chronic splenomegaly)
- Very early onset inflammatory bowel disease, starting before 6 years of age
- Loss of protein through the intestines (protein-losing enteropathy)
- Laboratory (blood test) findings
- Abnormal immunoglobulin (antibody) levels
- Abnormal oxidative burst test
- Abnormal response to vaccines
- Abnormal T cell growth (proliferation)
- Abnormal T cell subsets
- Absent or low TRECs on SCID newborn screening
- Absent perforin staining
- Absent or very low antibody levels (agammaglobulinemia/hypogammaglobulinemia)
- The immune system attacking the patient's own red blood cells (autoimmune hemolytic anemia)
- Elevated immunoglobulin M (IgM) levels
- Increased chromosome breakage
- Increased inflammatory markers (note the type)
- Increased soluble interleukin-2 receptor alpha (IL2Ra)
- Increased number of activated T cells
- Low pneumococcal vaccine antibody levels (titers)
- Low neutrophil count (neutropenia)
- Oligoclonal T cells
- Low counts of all blood cell types (pancytopenia)
- Reduced B cell subset(s) (note the type)
- Reduced number of T cells
- Short telomere length
- Low platelet count (thrombocytopenia)
- Mother's T cells found in the patient (transplacentally acquired maternal engraftment of T cells)
- Family history: a relative has an inherited immune-system disorder confirmed by a positive genetic test
What to expect
How the process works
- 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
Collect specimen
You’ll provide a blood, saliva, or cheek swab sample using a collection kit.
- 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 Immunology program for primary immunodeficiencies?
The Invitae Unlock Immunology program provides genetic testing for people suspected of having a primary immunodeficiency, an infection susceptibility syndrome, or an immune dysregulation or autoinflammatory condition. The Invitae Primary Immunodeficiency Panel examines 429 genes in one test, which can help your doctor identify the specific genetic cause of immune problems and decide on the best treatment path. The program is available to patients in the United States and must be ordered by a healthcare provider.
Is the Invitae Unlock primary immunodeficiency genetic test really free, and who pays for it?
The Invitae Unlock Immunology program is not billed as free upfront. The test is first submitted to your insurance plan. If your insurance approves the claim, it is processed under your plan as usual, and any questions about copays or cost-sharing should be directed to your care team. However, if your insurance denies the claim or you do not have insurance, Invitae covers the cost of testing so you will not receive a bill for the test itself.
What kind of sample is needed for the Invitae primary immunodeficiency genetic test?
The Invitae Primary Immunodeficiency Panel can be performed using a blood draw, a saliva sample, a buccal (cheek) swab, or an extracted DNA sample. Your ordering provider will choose the option that works best for you or your child. Collection is straightforward and can often be done right in your doctor's office or at a lab.
How long does it take to get results from the Invitae Unlock Immunology test?
Results from the Invitae Primary Immunodeficiency 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 waiting, your care team or a genetic counselor can help.
Is genetic counseling available with the Invitae Unlock Immunology program for primary immunodeficiencies?
Yes, the Invitae Unlock Immunology program provides access to genetic counseling services. A genetic counselor can help you understand your results, discuss what they mean for your family, and answer questions about next steps. This support is designed to make sure you feel informed and confident as you work with your care team.
Can the Invitae primary immunodeficiency panel help if my child had an abnormal newborn screen for SCID?
Yes, the Invitae Primary Immunodeficiency Panel covers genes associated with severe combined immunodeficiency and related conditions, including cases where a newborn screening showed absent or low TRECs. Genetic testing through the Invitae Unlock Immunology program can help your child's doctor confirm or clarify the diagnosis and plan the right treatment. Talk to your child's provider about whether this test is appropriate.
Who qualifies for Invitae Unlock Primary Immunodeficiencies genetic testing?
Patients may qualify for Invitae Unlock if they meet the program's eligibility criteria:
- Resides in the United States.
- Clinical suspicion for an inborn error of immunity (IEI), including primary immunodeficiencies or primary immune regulatory disorders.
- See full list of qualifying clinical presentations.
Questions to ask your doctor about Invitae Primary Immunodeficiency Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?