The Diagnostic Panel for Immune Disorders has been updated to include the latest classification of the International Union of Immunological Societies. The Panel for Blood Disorders has also been expanded due to new publications.
A definitive diagnosis of primary immunodeficiencies (PID) and autoinflammatory/autoimmune diseases (AID) can often only be made by detecting a pathogenic genetic change. Current data and findings on congenital immunity defects are essential. The expert committee of the International Union of Immunological Societies (IUIS) has completely revised the classification of congenital immunodeficiencies.1 We have incorporated the new findings of the IUIS into the update of the Panel for Immune Disorders.
As part of the update, the diagnosis of severe combined immunodeficiency (SCID) (PID02) and periodic fever syndromes (AID01) was more clearly differentiated from combined immunodeficiency (PID-03) and other autoinflammatory diseases (AID02), resulting in an overall higher sensitivity.
In addition, the following gene sets of the Diagnostic Panel for Immune Disorders have been revised based on the latest literature:
- interferonopathy type 1 and differential diagnosis (AID07, 24 genes)
- primary antibody deficiencies (PID01, 40 genes)
- neutropenias (PID07, 23 genes)
The genes for diagnosing blood formation defects and disorders of the hematological system (BLD) were also reviewed and updated based on the current scientific data. We have expanded the gene sets for:
- defects of the erythrocytes and anemia (BLD01, 69 genes)
- bleeding disorders with thrombophilia and thrombocythemia (BLD04, 15 genes)
- bone marrow failure syndromes (BLD05, 104 genes)
Analysis based on in-house exome enrichment
The Diagnostic Panel for Immune Disorders and the Diagnostic Panel for Blood Disorders are based on our in-house ExomeXtra® enrichment. It covers all protein-coding regions as well as intronic and intergenic variants that are described as disease-relevant in the HGMD and ClinVar databases. In addition, the ExomeXtra® enrichment enables genome-wide CNV calling with a comparable diagnostic resolution to array CGH.
Further information on our Diagnostic Panel for Immune Disorders and the Diagnostic Panel for Blood Disorders can be found here.
We will be happy to assist you in selecting the most appropriate diagnostic strategy for your patients. Call us at +49 (0) 7071 565 44 55 or send us an e-mail at diagnostic-support@cegat.com.
References
- Tangye, S. G. et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. Journal of clinical immunology 42, 1473–1507; 10.1172/JCI81260 (2022).