Immunological, Sarcoidosis, and Immunodeficiency (Immune) Panel:
This panel investigates genetic variances related to autoimmune disorders, sarcoidosis, and inborn immunodeficiencies, as well as long COVID, recurrent viral, fungal, or bacterial infections, and severe allergies.
What is Immunodeficiency:
Primary immunodeficiency is the term used to describe immune system disorders caused by genetic factors. Patients with these conditions are highly susceptible to illness and may experience recurring infections, susceptibility to autoimmunity, autoinflammatory diseases, and/or allergies. Individuals may also have a difficult time recovering from these conditions and require more intensive care.
The immune next generation sequencing (NGS) panel investigates germline variations in genes associated with antibody deficiencies, autoinflammatory disorders, combined immunodeficiencies, immune dysregulation disorders, and other similar conditions.
Clinical Utility:
The immune genetic testing panel can result in more personalized treatment and symptom management, inform family members about their risk factors, connect patients to resources and support, and provide options for family planning.
What is the outcome of genetic test results:
A. Positive Result: A pathogenic variant has been identified. Many immune deficiencies are recessive, meaning both copies must be defective to cause disease. Carriers may not show symptoms but may have reduced immune response under stress. This knowledge can guide treatment planning.
B. Variation of Uncertain Significance (VUS): A change was found, but its impact is unknown. VUS are not used for health decisions. They may later be reclassified as benign or disease-associated, so follow-up is recommended.
C. Negative Result: No disease-linked variant was found in the tested genes. The patient does not have a genetic variation associated with immune defects in the tested genes.
Purpose of the immune genetic test:
This panel is appropriate for individuals with a personal or family history of frequent, severe, or unusual infections, particularly if they require hospitalization or IV antibiotics. It helps confirm a diagnosis and guide treatment, prevent infections, and support lifestyle changes.
Method:
The test detects inherited (germline) mutations in immune-related genes. These genes direct the body’s response to infection and pollutants. Several genes linked to immune conditions are tested for known disease-causing variants.
This is a Laboratory Developed Test (LDT) validated at Express Gene Molecular Diagnostics Laboratory, using Twist Exome 2.0 and Illumina NovaSeq6000 NGS Platform. It is not FDA approved or cleared.
Limitations of Testing:
This test detects germline pathogenic variants only. It does not detect:
- Repeat expansions
- Large deletions/duplications
- Copy number variations
- Non-coding region mutations
- Structural rearrangements (inversions, translocations)
- Low-level mosaicism
- Variants in complex or low-complexity regions
- Variants with pseudogene interference