COL1A1/2 Genomic Sequencing
The Collagen Diagnostic Laboratory offers molecular testing of COL1A1 on chromosome 17 and COL1A2 on chromosome 7, the two genes that encode the chains of type I procollagen. Using genomic DNA, the coding sequences of the COL1A1 and COL1A2 genes are amplified using flanking intron primers and sequenced by automated sequencing (ABI 310).
The sensitivity for identifying a gene mutation by genomic sequencing of COL1A1/2 in an individual with OI is approximately 95%. Sequencing of type I collagen genes is slightly more sensitive than collagen screening in this regard.
Sample type: 5-7 cc of blood drawn in EDTA (lavender top tube)
Turnaround time: 6-8 weeks