Ehlers-Danlos syndromes [47 genes]

We have added a new panel for Ehlers-Danlos syndromes (35-gene panel) into our portfolio of massive sequencing (NGS) genetic testing services.

This panel includes the 21 priority genes associated with the different subtypes of these syndromes described to date (see table).

Additionally, it includes 14 genes related to aortic diseases and other connective tissue diseases that predispose to dilatation and/or rupture of the aorta and other arteries.
This study allows analyzing point variants as well as larger ones, such as large duplications and deletions (copy-number variations, CNVs) that can be causative of the studied disease and whose analysis is not possible by conventional studies or would require additional molecular studies.

• Genes considered secondary within the Ehlers-Danlos syndrome panel are those involved in other connective tissue diseases that predispose to the development of vascular dilatation and/or rupture events.
• Among the relevant pathologies for the differential diagnosis of Ehlers-Danlos syndromes are connective tissue diseases and aortopathies (such as Marfan, Loeys-Dietz, Shprintzen-Goldberg, and arterial tortuosity syndromes, among others), cutis laxa syndromes (type 1B, associated with defects in the EFEMP2 gene), and syndromes associated with genetic defects in the FLNA and ATP7A genes.