Description

Comprehensive Genetic Testing for Diagnosis and Management of EDS and Related Connective Tissue Disorders

Overview

Ehlers-Danlos Syndrome (EDS) is a complex group of hereditary connective tissue disorders primarily affecting the skin, joints, and blood vessels. Symptoms range from mild joint hypermobility to severe vascular complications.

This gene panel tests multiple genes associated with various EDS subtypes to provide a definitive genetic diagnosis, enabling personalized treatment and family counseling.

Why Choose the EDS Gene Panel?

  • Confirms clinical diagnosis of EDS
  • Differentiates among EDS subtypes with varying clinical management needs
  • Assesses risk for vascular complications
  • Supports family planning and genetic counseling
  • Guides personalized surveillance and preventive care

Genes Included in the Panel

The panel analyzes mutations in the following genes commonly associated with EDS and related connective tissue disorders:

  • COL5A1 (Classical EDS)
  • COL5A2 (Classical EDS)
  • COL3A1 (Vascular EDS)
  • TNXB (Classical-like EDS)
  • PLOD1 (Kyphoscoliotic EDS)
  • ADAMTS2 (Dermatosparaxis EDS)
  • FKBP14 (Kyphoscoliotic EDS)
  • CRTAP
  • B4GALT7
  • SLC39A13
  • Additional genes linked to connective tissue disorders

Who Should Consider This Test?

  • Individuals with joint hypermobility, stretchy or fragile skin, and easy bruising
  • Patients with a family history of EDS or connective tissue disorders
  • Those with vascular complications such as arterial rupture or aneurysms
  • Patients needing genetic confirmation for diagnosis or treatment planning
  • Individuals interested in family risk assessment

Testing Details

  • Sample Type: Blood
  • Fasting Required: No