Invitae Inborn Errors of Immunity and Cytopenias Panel

When someone in your family faces recurring infections, unusual immune responses, or unexplained low blood counts, finding the root cause can feel overwhelming. The Invitae Unlock Immunology program gives eligible U.S. patients access to a broad genetic test that examines 574 genes linked to inherited immunodeficiencies, immune dysregulation, and bone marrow and blood disorders. A genetic diagnosis can help your medical team choose the right treatment path and give your family clearer answers. The test is billed to insurance first, and if insurance denies the claim or you are uninsured, the program's sponsor covers the cost of testing so that finances do not stand in the way of getting answers.

• 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

1. 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. 2

   Collect specimen

   You’ll provide a blood, saliva, or cheek swab sample using a collection kit.

3. 3

   Receive results

   Results are typically available 10–21 days after the lab receives your sample. Your provider will review them with you.