COL5A1 and COL5A2 gene test report (classical EDS)
more than 90% of the patients
tests per year, worldwide, once, to confirm a clinical diagnosis
“Molecular analysis of COL5A1 and COL5A2 genes identifies a causal mutation in more than 90% of the patients and should be used as the standard confirmatory test”
- Kind of source
- Clinical guideline
- Read on
- 2026-11-06
- Daily check
- Quote found at the source on 2026-11-06
- What to know
- A one-off genetic test confirming classical EDS; the figure is the share of patients in whom it finds a causal variant.
Used in
Kept as evidence; no figure on the platform is computed from it yet.