COL3A1 Genomic Sequencing

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 (ABI 310).

The sensitivity for identifying a mutation in an individual with the clinical phenotype of EDS type IV is greater than 90% being limited by phenocopies resulting from mutations in TGFBR2 and likely other genes not yet delineated.

Turnaround time: 6-8 weeks