COL3A1 Genomic Sequencing for Ehlers-Danlos Syndrome type IV (Vascular EDS)

The Collagen Diagnostic Laboratory offers molecular testing of COL3A1 on chromosome 2.  Using genomic DNA, the coding sequences are amplified using flanking intron primers and sequenced by automated sequencing.

Sensitivity:  The sensitivity for identifying a mutation in an individual with the clinical phenotype of EDS type IV is greater than 90%.

Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA

COL3A1 gDNA testing
81479 Full gene sequence COL3A1 (collagen, type III, alpha 1) Ehlers-Danlos Syndrome type IV