Genomics and Genetic Testing

Ehlers Danlos Syndrome is a disorder caused by one or more genetic mutations. 

Several companies, like Gene Dx, may assist in the genetic diagnosis of EDS, and other heritable disorders of connective tissue, by performing testing of genomic DNA. (Heritable Disorders of Connective Tissue Panel) Gene Dx is unique in its focus on addressing the needs of rare disease patients through whole exome sequencing and a comprehensive genetic testing panel. In addition, they aid in:

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

"GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra-rare genetic disorders, as well as an unparalleled comprehensive genetic testing menu.

Our mission is to make clinical genetic testing available to patients and their families."

Learn more about Gene Dx and testing for Ehlers-Danlos Syndrome by visiting https://www.genedx.com/test-catalog/disorders/ehlers-danlos-syndrome/ or calling (888) 729-1206

 

It is important to recognize that, while there are several genes that may be studied to aid in diagnosis, specific types of Ehlers Danlos, like hypermobility type, do not currently have a known underlying genetic cause. This being said, a comprehensive comprehensive clinical study should be done by a proper medical professional for an accurate diagnosis. 

 

The Zebra Network receives no payment for the information provided. We make our best efforts to provide helpful information pertaining to patients with Ehlers-Danlos Syndrome. If you feel that something is inaccurately displayed or more information is needed, please contact us.