What are Immunodeficiency Panels? Immunodeficiency Panels are laboratory and genetic test panels used to evaluate the functioning of the immune system and help identify immune disorders.
Immunodeficiencies may be congenital (primary), associated with genetic changes, or acquired (secondary) as a result of diseases, treatments, or other factors.
What do they analyze? Depending on the panel, genes associated with the following may be analyzed:
Genetic panels may include the analysis of a large number of genes using Next-Generation Sequencing (NGS).
When is testing recommended? Testing may be recommended by a physician in cases of:
How is the test performed? Depending on the requested panel, the test may be performed using a venous blood sample. For genetic panels, DNA is isolated from the sample and analyzed using advanced molecular methods such as NGS.
Why is testing important? Identifying the cause of an immunodeficiency may help with:
They are panels of tests used to evaluate the immune system and identify genetic changes that may be associated with inherited immunodeficiencies.
The test may be recommended if you have frequent, severe, or recurrent infections, unusual infections, a poor response to treatment, or a family history of immunodeficiencies.
Depending on the panel, the test is usually performed using a venous blood sample. DNA is isolated from the sample and, for genetic panels, the analysis may be performed using NGS (Next-Generation Sequencing) technology.
No, fasting is not required for sample collection unless your physician has also requested other tests that require fasting.
No. If a blood sample is collected, the procedure takes only a few minutes and may cause only mild discomfort from the blood draw.
Depending on the panel, the test may help identify genetic changes associated with various forms of primary immunodeficiencies, including disorders affecting T cells, B cells, NK cells, the complement system, and other immune system mechanisms.
Yes. Frequent or unusual infections may be one of the reasons a physician recommends an evaluation for immunodeficiency.
Yes. Depending on the clinical history and the physician’s recommendation, genetic testing for immunodeficiencies can also be performed in children.
If a genetic variant associated with an immunodeficiency is identified, the result may help determine the genetic basis of the disorder. Genetic counseling may also be needed and, in certain cases, testing of family members may be recommended.
A positive result may indicate the presence of a genetic change associated with an immunodeficiency. However, not every genetic variant causes disease, and the result should be interpreted by a specialist physician or geneticist.
A negative result means that no genetic change associated with immunodeficiency was identified within the genes and variants covered by the panel. It does not rule out all possible causes of immune system problems.
Yes. It is recommended that the test be performed based on the evaluation of an immunologist, pediatrician, hematologist, or geneticist, depending on the symptoms and reason for testing.
If an inherited genetic change is identified, the physician or geneticist may recommend genetic counseling and testing of family members, when appropriate.
