Services
Comprehensive Immunodeficiency Panel:
The Comprehensive Immunodeficiency Panel is an analysis of 471 genes associated with an increased risk for hereditary conditions associated immunologic dysfunction. 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 and susceptibility to autoimmunity, autoinflammatory diseases, and/or allergies. Individuals may also have a difficult time recovering from these conditions and require more intensive care than other patients. This panel includes genes associated with antibody deficiencies, autoinflammatory disorders, combined immunodeficiencies, immune dysregulation disorders, and other conditions that may present with similar phenotypes.
Most Appropriate Patient Population for Testing:
This panel is appropriate for a patient who has a personal and/or family history of any of the symptoms listed below.
- Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections
- Inflammation and infection of internal organs
- Blood disorders, such as low platelet counts or anemia.
- Digestive problems, such as cramping, loss of appetite, nausea, and diarrhea
- Delayed growth and development
- Autoimmune disorders, such as lupus, rheumatoid arthritis, or type 1 diabetes
Benefits of Testing:
Genetic testing for primary immunodeficiency disorders can:
- Establish or confirm the appropriate diagnosis.
- Identify risks for additional related symptoms.
- Assist in modifying lifestyle changes.
- Result in more personalized treatment and symptom management
- Connect patients to relevant resources & support.
Also, if a patient tests positive then the patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in the patient, close blood relatives (children, siblings, parents) may have as great as a 50% risk to also have this same genetic variant and be at increased risk for the associated condition.
