Invitae Primary Immunodeficiency Panel

The Invitae Unlock Immunology program is designed for U.S. patients with clinical findings suggestive of a primary immunodeficiency, infection susceptibility syndrome, or immune dysregulation or autoinflammatory condition who meet the program's eligibility criteria. Relevant clinical indications include, among others, agammaglobulinemia or hypogammaglobulinemia, absent or low TRECs on SCID newborn screening, abnormal T-cell subsets or proliferation, abnormal oxidative burst, neutropenia, pancytopenia, elevated IgM, increased inflammatory markers, and transplacentally acquired maternal T-cell engraftment. Refer to the program's full eligibility requirements for specialty-specific criteria.

The Invitae Primary Immunodeficiency Panel interrogates 429 genes by NGS, spanning primary immunodeficiencies, infection susceptibility syndromes, and immune dysregulation and autoinflammatory conditions. This breadth allows a single order to address a wide differential, from SCID and agammaglobulinemia to autoinflammatory syndromes and immune dysregulation disorders, reducing the need for sequential targeted testing.

The Invitae Primary Immunodeficiency Panel accepts whole blood, saliva, buccal swab, or extracted gDNA. Turnaround time is 10 to 21 days from specimen receipt. Testing is performed by Invitae at Labcorp. Ordering can be completed online or via paper requisition, with collection kits available through the program.

The Invitae Unlock Immunology program bills the patient's insurance first. If the claim is approved, it processes under the patient's plan as usual. If insurance denies the claim or the patient is uninsured, Invitae covers the cost of testing. Ordering through the program carries no purchase or prescribing obligation. Any patient cost-sharing questions on approved claims should be directed to the patient's insurance plan or care team.

Yes, the Invitae Unlock Immunology program includes access to genetic counseling services. Genetic counselors are available to assist with pre-test considerations, results interpretation, and coordination of family cascade testing when a pathogenic or likely pathogenic variant is identified. This resource is built into the program to support clinical workflow.

Yes, when a causative variant is identified in the proband, the Invitae Unlock Immunology program can facilitate cascade testing for at-risk family members. This is particularly relevant in autosomal recessive, X-linked, and autosomal dominant forms of PID where identifying carrier status or presymptomatic affected relatives can inform surveillance and early intervention. Genetic counseling support is available to guide this process.

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.