Connective Tissue Report

Connective TissueConnective tissue disorders are a large group of diseases, both clinically and genetically heterogeneous. The underlying mutations concern elements of the extracellular matrix, such as elastin, collagen and muco-polysaccharides. Since connective tissue is ubiquitous in the body, its alterations cause consequences in numerous areas such as skin, joints, bones, blood vessels and lungs. The function of these proteins, in fact, consists in conferring resistance and elasticity, as well as mechanical support to anatomical structures.More than 50 genes analyzed It is recommended if: This report is intended for individuals who have signs and symptoms of a connective tissue disorder or who have a family history of connective tissue disorders. List of main conditions: Ehlers-Danlos syndrome Loeys-Dietz Syndrome 6 Macs Syndrome