Bone marrow failure / Anemia panel
For patients with abnormalities in multiple blood cell types, and it can detect various disorders including thalassemia, sickle cell disease, and Fanconi anemia, among others.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Bleeding disorders
- Bone marrow failure syndrome
- Congenital dyserythropoietic anemia
- Congenital sideroblastic anemia
- Diamond-Blackfan anemia
- Fanconi anemia
- Hemolytic anemias
- Hemophagocytic lymphohistiocytosis
- Hereditary spherocytosis
- Megaloblastic anemia
- Seckel syndrome
- Sitosterolemia
- Thrombocytopenia
CentoImmuno
Specifically tailored to target genes associated with Human Inborn Errors of Immunity (IEI). IEI encompasses a broad and varied range of disorders that share a common clinical characteristic: compromised innate and adaptive immunity (J Clin Immunol 2022 Oct;42(7):1508-1520). The causative variants found in the genes included in CentoImmuno typically confer susceptibility to infectious diseases, autoinflammatory diseases, neoplasia, autoimmunity, or allergies.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Anhidrotic ectodermal dysplasia with immunodeficiency
- Autoinflammatory disorders (recurrent fever, type 1 interferonopathies, sterile inflammation)
- Bone marrow failure (Fanconi anemia, dyskeratosis congenita,
bone marrow failure syndromes) - Common variable immunodeficiency
- Complement deficiencies (atypical hemolytic uremic syndrome)
- Congenital defects of phagocyte (Neutropenia, Shwachman-Diamond Syndrome, functional defects)
- Congenital thrombocytopenia
- Defects of intrinsic and innate immunity (predisposition to viral, bacterial, fungal and parasitic infections)
- Defects of Vitamin B12 and folate metabolism
- Diseases of immune dysregulation (Hemophagocytic lymphohistiocytosis, EBV susceptibility)
- DNA repair defects
- Hyper IgE syndromes
- Immunodeficiencies affecting cellular and humoral immunity
(Severe combined immunodeficiencies; Combined immunodeficiencies) - Immuno-osseous dysplasias
- Mendelian susceptibility to mycobacterial disease
- Predominantly antibody deficiencies (hypogammaglobulinemia, other antibody deficiencies)
- Syndromes with autoimmunity
- Thymic defects with additional congenital anomalies
