The Ehlers-Danlos syndrome type IV (vascular) is an autosomal dominant inherited disease that affects the connective tissue due to a defective synthesis of type III collagen. Genetic analysis for Ehlers-Danlos syndrome type IV is generally limited to COL3A1 genetic sequencing. The MHI Molecular Diagnosis Laboratory only reports the COL3A1 gene for this profile.
2014, PMID:24882528
2010, PMID: 20233780
Tested Gene:
| 1st line | 2nd line | 3rd line |
|---|---|---|
| COL3A1 | None | None |