Update of the Diagnostics Panel for Connective Tissue Diseases: New diagnostics for VISS syndrome and expanded diagnostics for cutis laxa and familial TAAD

The Diagnostic Panel for Connective Tissue Diseases has been revised according to the latest medical findings and expanded by 7 genes. In the update, a new phenotype and two new subtypes of already known phenotypes were included based on the Online Mendelian Inheritance in Man (OMIM) database.

The updated Panel for Connective Tissue Diseases includes 60 genes organized into two gene sets. The newly added genes make it possible to examine one additional clinical phenotype and two additional subtypes of already known clinical phenotypes and to confirm the diagnosis of the following diseases:

  • VISS syndrome
  • Cutis laxa, autosomal recessive, type IIE
  • Familial TAAD

Connective tissue is the sustaining tissue of all organs. For this reason, hereditary connective tissue diseases can manifest themselves differently. They centrally affect the blood vessels and the joints. Therefore, a genetic analysis is crucial to clarify a possible vascular involvement and thus important for further clinical decisions.

Since hereditary connective tissue diseases are often difficult to distinguish phenotypically, CeGaT’s gene set for connective tissue diseases is ideally suited to confirm the diagnosis for your patients. In addition to Cutis laxa and Ehlers-Danlos syndrome, other hereditary connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome and genetic causes of thoracic aortic aneurysms are also clarified in this gene set. Benefit from our comprehensive differential diagnostics for your patients.

The updated panel can be requested here.

We will be happy to assist you in selecting the best diagnostic strategy for your patients. Simply call us at 07071 565 44 55 or contact us by mail at diagnostic-support@cegat.de.

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