Ehlers-Danlos Syndrome Precision Panel

Overview

• 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. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Ehlers-Danlos is a pleiotropic syndrome affecting the skin, joints and blood vessels. It has been classically divided into six types (classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis), where the underlying collagen abnormality is different for each type. In some cases, EDS can be life threatening, whereas in others, individuals live a relatively uneventful life. EDS can have phenotypic overlap with conditions such as Marfan disease and cutis laxa.  
• The Igenomix Ehlers-Danlos Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

• The Igenomix Ehlers-Danlos Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of EDS presenting with: 
  • Skin hyperextensibility 
  • Joint Hypermobility 
  • Easy bruising 
  • Retinal detachment 
  • Mitral valve prolapse 
  • Hernias and organ prolapse 
  • Skeletal abnormalities: pectus excavatum, high arched palate, pes planus 
  • Digestive problems: heartburn and constipation 
  • Urinary stress incontinence 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. Clinical overlap exists between different EDS subtypes, as well as with other heritable connective tissue disorders, therefore the diagnosis relies on molecular confirmation with genetic identification of causative genes.  
• Early initiation of treatment with a multidisciplinary team in the form of physical therapy and surveillance to prevent vascular complications. 
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases