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