CeGaT has updated its Panels for Blood Disorders (BLD) and Immune Disorders (PID) according to the latest state of scientific knowledge. The diagnostic sensitivity increased even further. As part of the updates, the composition and structure of the panels have been revised to more clearly differentiate the disease patterns covered. This provides physicians with optimized differential diagnostics for their patients.
Update of the Panel for Blood Disorders (BLD)
In the Panel for Blood Disorders (BLD), the gene set for thrombocytopenia (BLD-02) has been divided into:
- Bleeding disorders: coagulopathies, hemophilia and (macro-) thrombocytopenias (BLD-03)
- Bleeding disorders with thrombophilia and thrombocythemia (BLD-04)
This division has created new differential diagnostic options. The now six instead of five gene sets of the panel were renumbered accordingly.
Update of the Panel for Immune Disorders (PID)
Additional gene sets have been included in the Panel for Immune Disorders. The other gene sets have been optimized in this course: The panel is now divided into autoinflammatory syndromes respectively autoimmune diseases (AID) and primary immunodeficiencies (PID). This new structuring helps to differentiate phenotypes better and to determine the most appropriate diagnostics.
Autoinflammatory syndromes and autoimmune diseases (AID)
The gene sets for autoinflammatory syndromes and autoimmune diseases cover diseases in which the body’s immune system is malfunctioning – it initiates immune responses against parts of the own body or a dysregulated inflammatory response. Thanks to new gene sets, the panel now additionally covers the following diseases:
- Defects of regulatory T cells and IPEX-like phenocopies
- Inflammation with symptoms in connective and supporting tissue
- Type I interferonopathies and differential diagnoses
- Immune dysregulation in the context of syndromal clinical pictures
The gene sets on primary immunodeficiencies examines immune deficiencies that can lead to increased susceptibility to infections of differing severity. The 16 gene sets of the panel can detect diseases such as:
- Primary antibody deficiencies
- Severe combined immunodeficiency (SCID), also in the context of NG screening
- Hyper-IgE syndrome and differential diagnoses
- Adaptive immunodeficiency in syndromes
- Proneness to infection: Mycobacterial Infections
- Proneness to infection: Viral Infections
- Generalized verrucosis
- Defects in signaling pathways that are important for immune responses
Panel Updates in Cooperation with Partners
The panel updates have been developed together with cooperation partners at the University Hospitals of Freiburg, Düsseldorf, and the Helios Klinikum Krefeld. Prof. Dr. med. Stefan Ehl continues to assist us in the management of ALPS and general AID cases, Prof. Dr. med. Klaus Warnatz supports us in CVID and B-cell deficiency cases.
All CeGaT panels are examined with CeGaT’s large panel approach. We always sequence all genes of a panel and evaluate the requested gene set. If necessary, we can quickly extend the evaluation to other gene sets. This gives you access to flexible and cost-efficient differential diagnostics. In addition, we offer a screening of all differential diagnostic relevant genes of the panel for variants of ACMG classes 4 and 5. CeGaT’s panel diagnostics also include the free of charge regular re-evaluation of variants of uncertain clinical significance (VUS) to increase the diagnostic yield further.
We are convinced that all patients should receive the best possible diagnostics. For this reason, our panels routinely examine single nucleotide variation (SNVs) and copy number variants (CNVs) and check for mosaicism. If necessary, we validate pathogenic deletions or duplications using MLPA or qPCR before reporting. The highest quality is our standard.