Diagnosing immune-related disorders precisely can provide life-changing treatment and options to better manage disease. By leveraging our robust and comprehensive rare disease-centric Bio/Databank, we carefully curate and document all variants that clinically correlate to symptoms – providing a comprehensive diagnosis of immune-related diseases.

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Bone marrow failure / Anemia panel

Our bone marrow failure / Anemia panel is intended for patients with abnormalities in more than two blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. Some specific disorders detected with this panel are hemophagocytic lymphohistiocytosis, Seckel syndrome, thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome as well as other types of anemias, such as thalassemia alpha and beta, sickle cell disease, spherocytosis, megaloblastic anemia, congenital sideroblastic, and dyserythropoietic anemia.

No. of genes: 214
TAT: 25 business days
Coverage: ≥99.00% ≥20x
NGS including CNV analysis

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  • 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


Our CentoImmuno panel is specifically designed to target genes associated with Human Inborn Errors of Immunity (IEI). The later consists of a large and diverse group of disorders presenting a common clinical characteristic; suppressed innate and adaptive immunity (J Clin Immunol 2022 Oct;42(7):1508-1520). Causative variants of genes included in CentoImmuno most often confer susceptibility to infectious disease, autoinflammatory disease, neoplasia, autoimmunity, or allergy.

No. of genes: 441
TAT: 25 business days
Coverage: ≥99.00% ≥20x
NGS including CNV analysis

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  • 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

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CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

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