Genetics & EDS
There are 13 subtypes of EDS and genetic mutations have been identified for 12 of them; however, in June 2024, The Norris Lab at the Medical University of South Carolina announced that they have identified a gene called KLK15 that may explain some types of hypermobile EDS. Testing for this mutation should be available by the end of 2024.
Looking for a Genetic Resources?
Want to learn more?
Looking for a Genetic Resources?
- Dr. Pradeep Atwal wrote the chapter in Disjointed on Genetics
- Invitae does not require working with a genetic counselor
- Sequencing can do a full genome
- Dayton Children's Hospital Genetics
- Nationwide Children's Hospital Genetics
Want to learn more?
- Update on hEDS mutation KLK15 research conducted by Norris Lab
- Known Genetic Mutations of all 13 subtypes of EDS
- Dr. Cortney Gensemer, EDS patient and genetics researcher
