Based on recent scientific findings, we have updated and revised our Panel for Blood and Immune Disorders.
Besides including 123 additional genes associated with blood and immune disorders, the most significant change is the separation of the panel into two stand-alone panels: one for genetic blood disorders (BLD) and one for primary immune deficiencies (PID). Both panels can now be ordered individually. This allows a more focused analysis of specific diseases and increases diagnostic sensitivity.
The new Panel for Blood Diseases (BLD) comprises 183 genes, divided into 5 gene sets:
- Erythrocytes (BLD01), including differential diagnoses for Diamond-Blackfan anemia, Spherocytosis, Stomatocytosis, Erythrocytosis, Enzyme defects, Sideroblastic anemia, Dyserythropoietic anemia and Hypochromic microcytic anemia.
- Thrombocytopenia (BLD02): The gene sets for Platelets, coagulation and Thrombocytopenia have been grouped under BLD02, including differential diagnoses for Thrombophilia, Hemophilia, and Macrothrombocytopenia.
- Bone marrow failure syndromes (BLD03): This gene set has been greatly expanded.
- BLD04 is a completely new gene set for the diagnosis of Hemochromatosis.
- BLD05 is also a new gene set for VB12-dependent megaloblastic anemia.
The new Panel for Primary Immune Disorders (PID) comprises 230 genes, divided into 8 gene sets:
- Antibody deficiency (PID01), allowing differential diagnoses for Hyper-IgM syndrome, Agammaglobulinemia, and common variable immunodeficiency.
- Complement deficiencies (PID02), including Neisseria infections
- Autoinflammatory diseases (PID03), including differential diagnoses for Periodic fever syndromes, Early-onset chronic inflammatory bowel diseases and Autoinflammatory syndromes without fever.
- Immune Dysregulation (PID04) now also covers secondary HLH and Immune dysregulation with colitis.
- Defects of Phagocytes (PID05), including differential diagnoses of Neutropenia, Mycobacteriosis, Leukocyte adhesion deficiency, chronic granulomatous disease.
- Innate immunity defects (PID06), allowing differential diagnoses for Chronic mucocutaneous candidiasis, Herpes simplex encephalitis.
- (Severe) Combined Immunodeficiency (PID07)
- Syndromes with immunodeficiencies (PID08) including Hyper-IgE syndrome, Chilblain lupus, Interferonopathy.
Gene sets PID01 and PID04 were developed in collaboration with our partners Prof. Grimbacher, MD, and Prof. Ehl, MD, from the Center for Chronic Immunodeficiency (CCI) at the University Medical Center Freiburg.
Please also note our cost and time efficient large panel approach. We always sequence all genes of a panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to any desired gene set for only little additional costs. Furthermore, all diagnostic panels include a panel-wide deletion/duplication screening using the copy number variation (CNV) track. We validate our analysis by means of MLPA or qPCR. The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available.
For further assistance please contact our team at firstname.lastname@example.org. The new panels can be ordered here: