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Ehlers Danlos Syndrome (EDS) & HSD, calling all types!
Bones, Joints & Muscles | Last Active: Feb 8 8:59pm | Replies (65)Comment receiving replies
Thank you so much for sharing this 🌼 May I ask what type of biopsy? It’s really interesting.
In my case so far is HSD because they didn’t saw something’s that could have made me fall under hEDS instead. My genetic test was from Invitae “Connective Tissue Disorders” panel cheek swab. The issue with this is that it’s missing two related genes. One of them TNBX that my independent lab find something I can’t understand tbh 🤷🏻♀️
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I just got my results from Invitae and they said I didn't have any eds markers for rare types, I have RyR1 and FLNB markers even though I meet all of the vascular and myopathic eds traits.I also have some previous genetic data showing the mutated genes that Invitae didn't find so I am confused as what to do next. I am getting a muscle biopsy to see what type of myopothies?dystrophy I have but should I do a connective tissue biopsy?