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a blood test for EDS type 4?

J

jen86

Messages
16
can someone tell me what kind of blood test would react or show ehlers-danlos syndrome type 4 in a person?
please let me know soon thank you.
 
JaimeS

JaimeS

Senior Member
Messages
3,408
Location
Silicon Valley, CA
EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene.
Click to expand...

So it's a genetics test if they're doing bloodwork. You're going to be cooling your heels awhile...

-J

Germain, D. P. (2007). Ehlers-Danlos syndrome type IV. Orphanet Journal of Rare Diseases, 2, 32. http://doi.org/10.1186/1750-1172-2-32
 
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