Ataxia Telangiectasia Precision Panel
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
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
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
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
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..