PRIMARY
Primary immunodeficiency refers to immune system disorders stemming from genetic factors, making individuals highly prone to infections, autoimmunity, autoinflammatory diseases, and allergies. Recent gene discoveries have broadened our understanding from solely immune defects to encompassing a spectrum of inborn errors of immunity.
The Comprehensive Primary Immunodeficiency NGS Panel integrates these advances, covering various conditions associated with immunodeficiency, aiding diagnosis and treatment planning.
This panel is recommended for individuals with a history of frequent infections, fevers, allergies, certain malignancies, or rash, particularly if infections are severe or recurrent. Benefits include accurate diagnosis, treatment guidance, lifestyle adjustments, personalized care, familial risk assessment, access to support resources, and family planning options.
Who should consider this test?
Individuals with a personal or family history of frequent infections, fevers, allergies, certain malignancies, or rash, especially if infections are recurrent, challenging to treat, require hospitalization or IV antibiotics, or are caused by uncommon organisms.
How can your patient benefit from it?
Confirmation of diagnosis and treatment guidance, enabling patients with immunodeficiency to take preventive measures against infections. Genetic testing aids in developing a management plan by:
- Establishing or confirming the diagnosis.
- Identifying risks for additional related symptoms
- Assisting in lifestyle modifications
- Personalizing treatment and symptom management
- Informing family members about their risk factors
- Connecting patients to relevant support resources
- Offering options for family planning.