Connective tissue diseases

Hereditary connective tissue diseases (HCTD) encompass a wide range of inherited disorders with significant clinical and genetic diversity. They are mostly caused by genetic alterations affecting key components of the connective tissue, such as collagen and elastin. Over 200 conditions are classified as HCTD, including Marfan syndrome, cutis laxa, and Ehlers-Danlos syndrome.

Request Test

  • Sample material: EDTA whole blood
  • Testing method: Next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics via PCR)
  • Turnaround time: from 2 weeks
  • Required documents:

Detailed information on sample submission can be found here.

DIAGNOSTIC SERVICES

The following table presents our indication-specific range of tests in this field:

INDICATION ANALYSIS
Arthrogryposis Gene panel
Cutis laxa Gene panel
Ehlers-Danlos syndrome (EDS) Gene panel
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) Gene panel
Loeys-Dietz syndrome Gene panel
Marfan syndrome Single gene analysis (FBN1)
Stickler syndrome Gene panel
Thoracic aortic aneurysms and aortic dissection Gene panel

The genes analyzed in the respective gene panels are always based on the current versions of the Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and entries from GeneReviews.

If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical picture, it is possible to request exome sequencing based on phenotypic characteristics.

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