Update and expansion of Diagnostic Panel for Kidney Diseases

CeGaT has updated its Diagnostic Panel for Kidney Diseases. The number of analyzed genes have been increased from 148 to 182 genes.

Specifically, the subpanels for Nephronophthisis, Renal Dysplasia, Renal Agenesia, CAKUT, Nephrotic Syndrome and Focal Segmental Glomerulosclerosis were comprehensively expanded and now include various differential diagnoses.

For further information on the Panel, please visit the page for Kidney Diseases.

Diagnostic Panels for Skin Diseases and Connective Tissue Diseases have been updated

CeGaT has updated and enlarged its Diagnostic Panels for Skin Diseases and Connective Tissue Diseases.

The panel for Skin Diseases now comprises twelve subpanels and has been complemented by the subpanels for Vascular and lymphatic disorders (DRM12) and Progeria syndromes (DRM13). The previous subpanels for ectodermal dysplasia and hypotrichosis and hypoplastic hair have been merged to DRM08. All subpanels have been updated and the number of analyzed genes has increased from 208 to 289 genes.

Also the panel for Connective Tissue Diseases has been updated. The former subpanel for Ehlers Danlos syndrome and differential diagnoses (CTD02) has been enlarged from 30 to 43 genes and is now called “Connective tissue diseases: Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses”. The panel now also includes genes associated with aortic aneurysm and arterial tortuosity syndrome and replaces the previous subpanel for Ehlers Danlos syndrome and differential diagnoses (CTD02, 30 genes) as well as the subpanel for aortic aneurysm, Loeys Dietz syndrome and arterial tortuosity syndrome (HRT11, 10 genes).

For further information on the Panels, please visit the sections for Skin Diseases and Connective Tissue Diseases.

CeGaT develops new Diagnostic Panel for Skeletal Disorders

CeGaT has developed a comprehensive Diagnostic Panel for skeletal disorders. The 13 subpanels (SKT01 to SKT13) include 214 genes which are associated with clinical pictures like metaphyseal, epiphyseal or spondylo-epi-(meta)-physeal dysplasia, micromelic dysplasia, short rib dysplasia, chondrodysplasia punctata, osteogenesis imperfecta and other changes in bone density and bone mineralization, isolated limb hypoplasia and craniosynostosis. Furthermore our Diagnostic Panel for skeletal disorders covers potentially lethal skeletal diseases and syndromes which typically involve changes in the skeleton.

For further information on the Panel, please visit the section for Skeletal Disorders.

Update of the Diagnostic Panels for Cardiac Diseases and RASopathies

CeGaT has updated its Diagnostic Panel for Cardiac Diseases. The panel now comprises a total of 156 genes (last version: 141 genes). All subpanels have been updated.

A new subpanel for Restrictive Cardiomyopathy (HRT12, 7 genes) was included.

Subpanel HRT11 (Aortic Aneurysm / Loeys-Dietz Syndrome / Arterial Tortuosity Syndrome) has been replaced by our updated Diagnostic Panel CTD02: Connective Tissue Diseases (Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses), which now comprises 43 genes.

The panel for RASopathien was extended from 13 to 23 genes.

For further information on these Diagnostic Panels, please visit the sections for Cardiac Diseases, RASopathies and Connective Tissue Diseases.

*Genes present in multiple subpanels are counted only once

Diagnostic Panel for Tumor Syndromes has been updated

CeGaT has updated its Diagnostic Panel for Tumor Syndromes. Next to an extension of genes the subpanels for Colon Cancer (CAN01) and Breast and Ovarian Cancers (CAN02) have been subdivided into CAN11, CAN12 and CAN21. Investigations will thus be targeted to smaller subpanels of genes with high and medium risks of cancer. It is possible to later request an extension of an investigation to include other subpanels. The panel now includes thirteen subpanels and a total of 109 genes.

For further information on the Panel, please visit the section for Tumor Syndromes.