Hereditary disorders of the connective tissue

Genetically caused connective tissue diseases include e.g.

• Marfan syndrome
• Ehlers-Danlos syndrome
• Loeys-Dietz syndrome
• Arthrogryposis

Some aortopathies/aortic aneurysms may also have a genetic cause. We offer appropriate panels for the respective suspected diagnoses.

Please note that in the case of Ehlers-Danlos syndrome of the hypermobile type (type III), often no pathogenic variant can be detected, making it primarily a clinical diagnosis.