Invitae Primary Immunodeficiency Panel

If you or your child has been dealing with recurring infections, low antibody levels, or other signs that the immune system is not working the way it should, there may be a genetic reason. The navigateAPDS program, sponsored by Pharming Healthcare, Inc., offers no-cost genetic testing to help find out whether Activated PI3K-Delta Syndrome (APDS) is the cause. Getting a clear genetic answer can open the door to more targeted treatment and better long-term care planning. The program also includes free genetic counseling after your results come back, so you will have expert support to help you understand what the findings mean for you and 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

1. 1

   Discuss Testing

   Your provider will review the program, confirm you meet the criteria, and submit the test order through the online portal.

2. 2

   Give Sample

   Provide a specimen using the Invitae collection kit. The kit includes a prepaid label for return shipping from the US or Canada.

3. 3

   Get Results

   Results are delivered to your provider, who will review them with you. Additional resources may be available to support next steps.