COL1A1 and COL1A2 – Exon 6 Directed Sequencing

The Collagen Diagnostic Laboratory offers direct sequencing of exon 6 of COL1A1 on chromosome 17 and COL1A2 on chromosome 7. Using genomic DNA, the coding sequences and flanking intron sequence of exon 6 are amplified and sequenced by automated sequencing (ABI 310).

The sensitivity for identifying a mutation in an individual with the clinical phenotype of EDS type VIIA or VIIB is 98-99%.

Turnaround time: 2-3 weeks