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).
Sensitivity: 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.
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| COL1A1 and COL1A2 gDNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplifications COL1A1 (x17) |
| 83898 | PCR amplifications COL1A2 (x23) |
| 83904 | Mutation identification by sequencing COL1A1 (x26) |
| 83904 | Mutation identification by sequencing COL1A2 (x35) |
| 83912 | Interpretation & Report |
| TOTAL | $2,252.00 |
| DNA Extraction from Blood Sample |
| CPT CODE | DESCRIPTION |
|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
