Ataxia Telangiectasia Precision Panel – 4 genes
Ataxia Telangiectasia is a complex multisystem disorder characterized by progressive neurologic impairment, altered balance, variable immunodeficiency with susceptibility to upper respiratory tract infections, impaired organ maturation, ocular and cutaneous telangiectasia and predisposition to malignancy.
Congenital Neutropenia Precision Panel – 9 genes
Neutropenia is a dangerous and potentially fatal condition that exposes patients to recurrent infections. Primary causes constitute a small portion of the whole and are mostly unknown.
Severe Combined Immunodeficiency Precision Panel – 37 genes
Severe Combined Immunodeficiency (SCID) is a genetically heterogeneous group of disorders resulting from genetic defects in both cellular and humoral immunity where there is an impaired lymphocyte development and function.
Hemophagocytic Lymphohistiocytosis Precision Panel – 18 genes
Hemophagocytic Lymphohistiocytosis (HLH) is a condition where the organism produces too many activated immune cells (macrophages and lymphocytes), creating a state of uncontrolled hyperinflammatory response. Symptoms usually develop within the first months or years of life.
Dyskeratosis Congenital Precision Panel – 13 genes
Dyskeratosis Congenita (DKC) is a rare, progressive bone marrow failure syndrome characterized by reticulated skin hyperpigmentation, nail dystrophy and oral leukoplakia. Patients usually present with symptoms of skin hyperpigmentation and nail changes during the first decade of life..
Primary Immunodeficiency Precision Panel – 243 genes
Primary Immunodeficiencies are a growing group of over 400 inborn errors of immunity that range in severity from life-threatening disorders presenting in infancy to less severe disorders diagnosed in adulthood. Most patients with primary immunodeficiencies present with recurrent or chronic infections. Some disorders impact essential immunologic pathways and result in susceptibility to opportunistic organisms, whereas other disorders may cause susceptibility to a very narrow number of pathogens with a broad age of presentation.
Chronic Granulomatous Disease Precision Panel – 9 genes
Chronic Granulomatous Disease (CGD) is a genetically heterogeneous condition featuring recurrent, life-threatening bacterial and fungal infections as well as granuloma formation. CGD is caused by defects in the oxidative mechanisms found in phagocytes that are responsible for the destruction of certain microbes.
Inherited Disorders of the Complement System Precision Panel – 75 genes
Inherited Disorders of the Complement System are rare disorders that predispose to bacterial infections and/or systemic lupus erythematosus (SLE). The complement system is a group of circulating proteins that participate in the innate immunity, bind to pathogens and destroys them.