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Comment by nextos

1 day ago

What treatment did your wife receive? Did she improve?

Did doctors confirm Ehlers Danlos with genome sequencing?

2 comments

nextos

Reply
randerson  1 day ago

90% of EDS sufferers have the Hypermobile variant, for which there is no genetic test. At least thats what I was told by an EDS specialist a few years ago.

  • nextos  1 day ago

    Yes. However, there are some polygenic risk scores for EDS. While not approved for clinical practice, they can serve as guidance.