Connective Tissue Disorder
Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.
Panels
Cutis Laxa Precision Panel
Cutis Laxa (CL), also known as elastolysis, is an inherited or acquired group of connective tissue disorders characterized by inelastic skin that hangs loosely in folds. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, the clinical presentation and mode of inheritance is heterogeneous.
Ehlers-Danlos Syndrome Precision Panel
Ehlers-Danlos Syndromes (EDS) are a clinically and genetically heterogeneous group of connective-tissue disorders, where the genetic defect affects collagen and connective-tissue synthesis and structure. It is characterized by hypermobility, cutaneous fragility and hyperextensibility.
Marfan Syndrome Precision Panel
Marfan Syndrome (MFS) is a spectrum of disorders caused by a genetic defect of the connective tissue and it is inherited in an autosomal dominant pattern. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Marfan Syndrome is a pleiotropic syndrome affecting mainly musculoskeletal, cardiac and ocular systems.
